SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS781201059 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS781201877 ENG Health Risk Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia, Telangiectasia
RS781204418 MCM10 Health Risk Pathogenic Immunodeficiency 80 with or without congenital cardiomyopathy, Fetal Cardiomyopathy
RS781204563 AGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS781204574 XIAP Health Risk Conflicting classifications of pathogenicity X-linked lymphoproliferative disease due to XIAP deficiency, Inborn genetic diseases
RS781205119 LGI1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant epilepsy with auditory features, Autosomal dominant epilepsy with auditory features
RS781205876 FGF8 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly sequence, Peters plus syndrome
RS781205883 HADHA Health Risk Pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS781206278 CC2D2A Health Risk Pathogenic Meckel syndrome, type 6
RS781206362 VPS33B Health Risk Pathogenic/Likely pathogenic VPS33B-related disorder, Arthrogryposis
RS781206726 KIF12 Health Risk Pathogenic Cholestasis, progressive familial intrahepatic
RS781206839 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS781207636 LRP6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781208496 JAK3 Health Risk Conflicting classifications of pathogenicity T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS781208584 SETD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Inborn genetic diseases
RS781208850 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS781209064 MYO5B Health Risk Conflicting classifications of pathogenicity Congenital microvillous atrophy, Congenital microvillous atrophy
RS781209989 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Bartter syndrome
RS781210585 STX1B Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 9
RS781212006 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS781212379 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS781213038 ALPL Health Risk Pathogenic Hypophosphatasia, Hypophosphatasia
RS781213892 ATP8B1 Health Risk Pathogenic Benign recurrent intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1
RS781213951 HSD3B2 Health Risk Pathogenic/Likely pathogenic 3 beta-Hydroxysteroid dehydrogenase deficiency, HSD3B2-related disorder
RS781213977 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS781214021 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS781214034 EDNRB Health Risk Conflicting classifications of pathogenicity Hearing impairment, Aganglionosis
RS781214057 BMPER Health Risk Conflicting classifications of pathogenicity Diaphanospondylodysostosis, Diaphanospondylodysostosis
RS781214178 SRD5A2 Health Risk Likely pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
RS781215442 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS781216924 FANCA Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS781216969 SMOC1 Health Risk Pathogenic —
RS781217193 TNPO3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F
RS781218645 RERE Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without anomalies of the brain, eye
RS781219481 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS781220405 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Myopathy
RS781220804 KMT2C Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 2, Inborn genetic diseases
RS781221411 BLM Health Risk Pathogenic/Likely pathogenic Bloom syndrome, Hereditary breast ovarian cancer syndrome
RS781222092 BPGM Health Risk Pathogenic Deficiency of bisphosphoglycerate mutase, Deficiency of bisphosphoglycerate mutase
RS781222233 MUTYH Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS781222498 SPAST Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS781222705 HADHA Health Risk Pathogenic/Likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS78122364 PAX2 Health Risk Pathogenic Renal coloboma syndrome, Renal coloboma syndrome
RS781223647 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS781224411 DNAH8 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS781225444 TRPV3 Health Risk Conflicting classifications of pathogenicity Isolated focal non-epidermolytic palmoplantar keratoderma, Inborn genetic diseases
RS781226141 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS781226831 C3 Health Risk Conflicting classifications of pathogenicity Complement component 3 deficiency, Atypical hemolytic-uremic syndrome with C3 anomaly
RS781227659 DOK7 Health Risk Pathogenic Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
RS781227857 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS781227859 CNGA3 Health Risk Likely pathogenic Achromatopsia, Achromatopsia 2
RS781228974 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS781229123 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS781229199 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS781230154 SRP72 Health Risk Conflicting classifications of pathogenicity Autosomal dominant aplasia and myelodysplasia, Autosomal dominant aplasia and myelodysplasia
RS781230182 FUCA1 Health Risk Pathogenic Fucosidosis, Fucosidosis
RS781230603 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS781230604 SLC12A1 Health Risk Pathogenic Bartter disease type 1, Bartter disease type 1
RS781231694 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS781231890 PCDH15 Health Risk Conflicting classifications of pathogenicity —
RS781231935 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS781234577 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS781236248 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS781236436 COG6 Health Risk Pathogenic/Likely pathogenic COG6-congenital disorder of glycosylation, COG6-congenital disorder of glycosylation
RS781236853 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS781237311 WNT10A Health Risk Pathogenic Odonto-onycho-dermal dysplasia, Tooth agenesis
RS781240147 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, FREM2-related disorder
RS781241667 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS781242821 VPS13A Health Risk Pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS781243278 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS781243845 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS781244140 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS781244266 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer
RS781244377 SPTA1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 3, Hereditary spherocytosis type 3
RS781244480 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS781244602 POMC Health Risk Pathogenic POMC-related disorder, POMC-related disorder
RS781244729 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, NPHP3-related disorder
RS781244906 CYP11B2 Health Risk Likely pathogenic CYP11B2-related disorder, CYP11B2-related disorder
RS781245249 GPI Health Risk Pathogenic Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency
RS78124534 AGK Health Risk Conflicting classifications of pathogenicity Sengers syndrome, Cataract 38
RS781247345 USP7 Health Risk Pathogenic —
RS781248560 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS781248973 PHEX Health Risk Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS781249059 RP1 Health Risk Likely pathogenic Inborn genetic diseases, RP1-related disorder
RS781249431 VPS13A Health Risk Pathogenic —
RS781249721 COL4A1 Health Risk Conflicting classifications of pathogenicity COL4A1-related disorder, Inborn genetic diseases
RS781250495 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS781250966 CAMTA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781251175 PDE6B Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness autosomal dominant 2, Retinitis pigmentosa
RS781251438 MPDZ Health Risk Pathogenic/Likely pathogenic Hydrocephalus, nonsyndromic
RS781251567 LZTR1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS781252161 CC2D2A Health Risk Pathogenic/Likely pathogenic Joubert syndrome 9, Joubert syndrome
RS781252270 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS781252626 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RAI1-related disorder
RS781254071 ITPA Health Risk Pathogenic/Likely pathogenic Inosine triphosphatase deficiency, Inosine triphosphatase deficiency
RS781254365 DNMT3A Health Risk Conflicting classifications of pathogenicity Tatton-Brown-Rahman overgrowth syndrome, Craniosynostosis syndrome
RS781254437 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS781254508 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS781254582 ALDH7A1 Health Risk Pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS781254854 ABCA4 Health Risk Pathogenic/Likely pathogenic Stargardt disease, Stargardt disease
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