SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS886062287 BBS9 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 9, Bardet-Biedl syndrome
RS886062344 GCK Health Risk Conflicting classifications of pathogenicity Hyperinsulinism due to glucokinase deficiency, Permanent neonatal diabetes mellitus
RS886062345 GCK Health Risk Conflicting classifications of pathogenicity Hyperinsulinism due to glucokinase deficiency, Permanent neonatal diabetes mellitus
RS886062346 GCK Health Risk Conflicting classifications of pathogenicity Transient Neonatal Diabetes, Recessive
RS886062347 GCK Health Risk Conflicting classifications of pathogenicity Hyperinsulinism due to glucokinase deficiency, Transient Neonatal Diabetes
RS886062348 GCK Health Risk Conflicting classifications of pathogenicity Hyperinsulinism due to glucokinase deficiency, Maturity-onset diabetes of the young type 2
RS886062353 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
RS886062372 DDC Health Risk Conflicting classifications of pathogenicity Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS886062374 DDC Health Risk Pathogenic Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS886062400 PMS2 Health Risk Pathogenic/Likely pathogenic Lynch syndrome 4, Hereditary nonpolyposis colorectal neoplasms
RS886062401 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS886062403 GUSB Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS886062404 GUSB Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS886062406 ASL Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Congenital portosystemic shunt
RS886062459 ABCB4 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 3, Cholestasis
RS886062474 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome 11
RS886062501 PEX1 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 1A (Zellweger), Zellweger spectrum disorders
RS886062508 PEX1 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 1A (Zellweger), Zellweger spectrum disorders
RS886062529 SLC25A13 Health Risk Conflicting classifications of pathogenicity Citrullinemia type II, Citrin deficiency
RS886062543 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Cohen syndrome
RS886062546 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder
RS886062574 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Occult macular dystrophy
RS886062575 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Occult macular dystrophy
RS886062585 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Occult macular dystrophy
RS886062652 WASHC5 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 8, Ritscher-Schinzel syndrome
RS886062653 WASHC5 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 8, 7 conditions
RS886062690 KCNQ3 Health Risk Conflicting classifications of pathogenicity Seizures, benign familial neonatal
RS886062691 KCNQ3 Health Risk Conflicting classifications of pathogenicity Benign neonatal seizures, Seizures
RS886062698 KCNQ3 Health Risk Conflicting classifications of pathogenicity —
RS886062702 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS886062706 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS886062707 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS886062710 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS886062716 NDRG1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4D, Charcot-Marie-Tooth disease type 4D
RS886062730 TRAPPC9 Health Risk Conflicting classifications of pathogenicity —
RS886062745 SLC39A4 Health Risk Conflicting classifications of pathogenicity Hereditary acrodermatitis enteropathica, Hereditary acrodermatitis enteropathica
RS886062749 SLC39A4 Health Risk Conflicting classifications of pathogenicity Hereditary acrodermatitis enteropathica, Hereditary acrodermatitis enteropathica
RS886062781 ASAH1 Health Risk Likely pathogenic Farber lipogranulomatosis, Farber lipogranulomatosis
RS886062835 NEFL Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 1F, Charcot-Marie-Tooth disease type 2E
RS886062888 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, WRN-related disorder
RS886062892 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Werner syndrome
RS886062919 FGFR1 Health Risk Conflicting classifications of pathogenicity Craniosynostosis syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia
RS886062920 FGFR1 Health Risk Conflicting classifications of pathogenicity Craniosynostosis syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia
RS886062922 ADAM9 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 9, Cone-rod dystrophy 9
RS886062952 HGSNAT Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-C
RS886062953 HGSNAT Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-C
RS886062977 MCM4 Health Risk Conflicting classifications of pathogenicity Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency, Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
RS886063030 CHD7 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 5 with or without anosmia, Hypogonadotropic hypogonadism 5 with or without anosmia
RS886063034 CHD7 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE syndrome
RS886063037 CHD7 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE syndrome
RS886063038 CHD7 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE syndrome
RS886063058 MCPH1 Health Risk Conflicting classifications of pathogenicity Microcephaly 1, primary
RS886063149 CA2 Health Risk Conflicting classifications of pathogenicity Osteopetrosis with renal tubular acidosis, Osteopetrosis with renal tubular acidosis
RS886063161 CNGB3 Health Risk Pathogenic/Likely pathogenic CNGB3-related disorder, Achromatopsia 3
RS886063169 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS886063208 GDF6 Health Risk Conflicting classifications of pathogenicity Klippel-Feil syndrome 1, autosomal dominant
RS886063220 TGFBR1 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 1, Multiple self-healing squamous epithelioma
RS886063224 TGFBR1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1
RS886063264 INVS Health Risk Conflicting classifications of pathogenicity Infantile nephronophthisis, Nephronophthisis
RS886063266 INVS Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS886063313 ABCA1 Health Risk Conflicting classifications of pathogenicity Hypoalphalipoproteinemia, primary
RS886063320 FKTN Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS886063349 ELP1 Health Risk Conflicting classifications of pathogenicity Familial dysautonomia, Familial dysautonomia
RS886063353 MUSK Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1
RS886063364 ALAD Health Risk Conflicting classifications of pathogenicity Porphobilinogen synthase deficiency, Porphobilinogen synthase deficiency
RS886063393 CDK5RAP2 Health Risk Conflicting classifications of pathogenicity Microcephaly 3, primary
RS886063405 GSN Health Risk Conflicting classifications of pathogenicity Finnish type amyloidosis, Inborn genetic diseases
RS886063418 LMX1B Health Risk Conflicting classifications of pathogenicity Nail-patella syndrome, Nail-patella-like renal disease
RS886063476 ENG Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS886063482 DPM2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy with intellectual disability and severe epilepsy, Congenital muscular dystrophy with intellectual disability and severe epilepsy
RS886063501 SPTAN1 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS886063514 DOLK Health Risk Conflicting classifications of pathogenicity DK1-congenital disorder of glycosylation, DK1-congenital disorder of glycosylation
RS886063553 SETX Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia, autosomal recessive
RS886063554 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS886063555 SETX Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia, autosomal recessive
RS886063623 TSC1 Health Risk Conflicting classifications of pathogenicity Isolated focal cortical dysplasia type II, Tuberous sclerosis 1
RS886063625 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS886063630 SURF1 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Leigh syndrome
RS886063636 ADAMTS13 Health Risk Conflicting classifications of pathogenicity Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS886063644 ADAMTSL2 Health Risk Conflicting classifications of pathogenicity Geleophysic dysplasia 1, Geleophysic dysplasia 1
RS886063657 DBH Health Risk Conflicting classifications of pathogenicity Orthostatic hypotension 1, Inborn genetic diseases
RS886063659 DBH Health Risk Conflicting classifications of pathogenicity Orthostatic hypotension 1, Orthostatic hypotension 1
RS886063676 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS886063702 LHX3 Health Risk Conflicting classifications of pathogenicity Non-acquired combined pituitary hormone deficiency with spine abnormalities, Non-acquired combined pituitary hormone deficiency with spine abnormalities
RS886063706 LHX3 Health Risk Conflicting classifications of pathogenicity Non-acquired combined pituitary hormone deficiency with spine abnormalities, Non-acquired combined pituitary hormone deficiency with spine abnormalities
RS886063711 INPP5E Health Risk Conflicting classifications of pathogenicity Joubert syndrome 1, Joubert syndrome
RS886063713 INPP5E Health Risk Likely pathogenic MORM syndrome, Joubert syndrome 1
RS886063722 AGPAT2 Health Risk Likely pathogenic Congenital generalized lipodystrophy type 1, Congenital generalized lipodystrophy type 1
RS886063743 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS886063776 SMARCA2 Health Risk Conflicting classifications of pathogenicity Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome
RS886063796 SMARCA2 Health Risk Conflicting classifications of pathogenicity Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome
RS886063819 KCNV2 Health Risk Conflicting classifications of pathogenicity Cone dystrophy with supernormal rod response, Cone dystrophy with supernormal rod response
RS886063881 DNAI1 Health Risk Conflicting classifications of pathogenicity Kartagener syndrome, Primary ciliary dyskinesia
RS886063884 GALT Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS886063885 GALT Health Risk Pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS886063896 FANCG Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia
RS886063898 FANCG Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group G, Fanconi anemia
RS886063926 GNE Health Risk Conflicting classifications of pathogenicity Sialuria, GNE myopathy
RS886063927 GNE Health Risk Conflicting classifications of pathogenicity Sialuria, GNE myopathy
RS886063957 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
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