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
RS766166913 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS766167046 PDZD7 Health Risk Pathogenic Usher syndrome, Usher syndrome
RS766167375 KIAA0825 Health Risk Pathogenic Polydactyly, postaxial
RS766168524 GNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-D
RS766168647 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Polymerase proofreading-related adenomatous polyposis
RS766168717 EMC1 Health Risk Pathogenic/Likely pathogenic Cerebellar atrophy, visual impairment
RS766168868 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS766169193 POMT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS766169253 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS766169444 WFS1 Health Risk Uncertain significance/Uncertain risk allele Wolfram syndrome 1, Inborn genetic diseases
RS766170422 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS766172626 NEXMIF Health Risk Conflicting classifications of pathogenicity —
RS766173 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS766173546 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS766173642 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS766173950 TTLL5 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS766175179 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS766175657 SOX10 Health Risk Conflicting classifications of pathogenicity —
RS766177007 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS766177957 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS766178353 NPC1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C1
RS766178412 TCIRG1 Health Risk Pathogenic —
RS766179352 MBD5 Health Risk Pathogenic Intellectual disability, autosomal dominant 1
RS766181526 TULP1 Health Risk Likely pathogenic Retinal dystrophy, Leber congenital amaurosis
RS766181895 MAP3K7 Health Risk Conflicting classifications of pathogenicity —
RS766183395 ACADS Health Risk Conflicting classifications of pathogenicity Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS766184155 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS766184697 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Sotos syndrome
RS766184763 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS766187198 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 11
RS766187468 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS766187894 PACS1 Health Risk Conflicting classifications of pathogenicity —
RS766187994 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, MYO15A-related disorder
RS766188849 PNPLA1 Health Risk Likely pathogenic Congenital ichthyosiform erythroderma, Lamellar ichthyosis
RS766188851 OCA2 Health Risk Pathogenic SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
RS766190197 ADGRV1 Health Risk Likely pathogenic —
RS766191360 SLC6A3 Health Risk Conflicting classifications of pathogenicity Parkinsonism-dystonia, infantile
RS766191969 HNF1A Health Risk Pathogenic Maturity-onset diabetes of the young type 3, Type 1 diabetes mellitus 20
RS766192644 GIPC3 Health Risk Conflicting classifications of pathogenicity —
RS766192888 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS766193278 NEFH Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2CC, Charcot-Marie-Tooth disease axonal type 2CC
RS766194658 CEP152 Health Risk Likely pathogenic Seckel syndrome 5, Microcephaly 9
RS766195581 ASXL3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766196208 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS766196255 TARDBP Health Risk Pathogenic Amyotrophic lateral sclerosis type 10, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS
RS766196673 CYP2U1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spastic paraplegia
RS766196697 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS766196737 RHO Health Risk Likely pathogenic Retinitis pigmentosa 4, Retinitis pigmentosa 4
RS766196837 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS766197164 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS766197882 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS766198119 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS766198135 STXBP2 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Autoinflammatory syndrome
RS766198611 SLC3A1 Health Risk Pathogenic/Likely pathogenic Cystinuria, Cystinuria
RS766199191 PYGM Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type V
RS766199335 CDC20 Health Risk Pathogenic Oocyte maturation defect 14, Oocyte maturation defect 14
RS766199339 NKX2-5 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 7, Cardiovascular phenotype
RS766199971 HSD17B4 Health Risk Pathogenic/Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1
RS766200310 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS766200402 TTPA Health Risk Conflicting classifications of pathogenicity Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E
RS766200637 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS766202031 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS766202221 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS766203252 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 2, Long QT syndrome
RS766203266 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome 9, Meckel syndrome
RS766203500 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS766204229 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS766204907 SCN1B Health Risk Conflicting classifications of pathogenicity Brugada syndrome 5, Cardiovascular phenotype
RS766205107 PCNT Health Risk Pathogenic/Likely pathogenic PCNT-related disorder, Microcephalic osteodysplastic primordial dwarfism type II
RS766205731 SHANK3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766206507 SLC26A4 Health Risk Pathogenic Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS766207096 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS766208466 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Hematuria
RS766209297 PKP2 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9
RS766209304 SGCA Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS766209790 CPT1A Health Risk Likely pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS766209938 COL4A1 Health Risk Pathogenic/Likely pathogenic Abnormal cerebral cortex morphology, Corpus callosum
RS766211091 SMO Health Risk Likely pathogenic Congenital hypothalamic hamartoma syndrome, Congenital hypothalamic hamartoma syndrome
RS766211536 COL11A2 Health Risk Pathogenic —
RS766212625 FOXRED1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766212849 SCN9A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 7
RS766213678 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS766214390 CTC1 Health Risk Pathogenic/Likely pathogenic Dyskeratosis congenita, Cerebroretinal microangiopathy with calcifications and cysts 1
RS766215027 ASXL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766215295 AGBL5 Health Risk Likely pathogenic —
RS766215523 PNPLA1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 10, Autosomal recessive congenital ichthyosis 10
RS766216871 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, MYH7-related skeletal myopathy
RS766217603 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS766218250 FLCN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
RS766218865 BBS1 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS766219320 MMUT Health Risk Pathogenic —
RS766220173 LOX Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS766220211 AHDC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766221834 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS766222251 ENTPD1 Health Risk Pathogenic Hereditary spastic paraplegia 64, Hereditary spastic paraplegia 64
RS766223343 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS766223757 CEP152 Health Risk Conflicting classifications of pathogenicity Seckel syndrome 5, Microcephaly 9
RS766223850 TTR Health Risk Conflicting classifications of pathogenicity —
RS766225545 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2, Usher syndrome type 2
RS766226888 CNOT3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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