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
RS974891221 LAMB2 Health Risk Pathogenic Nephrotic syndrome, Pierson syndrome
RS974953849 TTN Health Risk Likely pathogenic Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS974956317 RB1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Retinoblastoma
RS974957771 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS975005146 HGD Health Risk Pathogenic/Likely pathogenic Alkaptonuria, Alkaptonuria
RS975049556 TPRN Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS975080118 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS975084437 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS975121308 XPC Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum, group C
RS975148812 COL4A4 Health Risk Conflicting classifications of pathogenicity —
RS975159988 COL3A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS975191415 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS975245291 COG5 Health Risk Conflicting classifications of pathogenicity COG5-congenital disorder of glycosylation, Inborn genetic diseases
RS975247998 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS975299630 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Carcinoma of colon
RS975304153 TPP1 Health Risk Likely pathogenic —
RS975308906 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS975329861 SCN9A Health Risk Likely pathogenic Neuropathy, hereditary sensory and autonomic
RS975406724 TMPRSS15 Health Risk Pathogenic —
RS975409254 GALNS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS975431860 LMF1 Health Risk Likely pathogenic —
RS975446880 RAI1 Health Risk Conflicting classifications of pathogenicity RAI1-related disorder, RAI1-related disorder
RS975447813 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS975457368 DMRT2 Health Risk Conflicting classifications of pathogenicity —
RS975490066 SUFU Health Risk Likely pathogenic Gorlin syndrome, Gorlin syndrome
RS975490342 OTOG Health Risk Conflicting classifications of pathogenicity —
RS975510328 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS975527828 HCN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS975577894 MTOR Health Risk Conflicting classifications of pathogenicity Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, Isolated focal cortical dysplasia type II
RS975635861 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS975681352 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS975712950 COL4A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS975724885 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS975741762 MCPH1 Health Risk Likely pathogenic Autosomal recessive primary microcephaly, Autosomal recessive primary microcephaly
RS975753572 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Autosomal dominant cerebellar ataxia
RS975756878 KIF7 Health Risk Conflicting classifications of pathogenicity Acrocallosal syndrome, KIF7-related disorder
RS975779242 NIPBL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cornelia de Lange syndrome 1
RS975786488 LRRK2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal dominant Parkinson disease 8
RS975809121 LRPPRC Health Risk Conflicting classifications of pathogenicity Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS975843462 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS975858414 MEGF8 Health Risk Conflicting classifications of pathogenicity MEGF8-related Carpenter syndrome, Inborn genetic diseases
RS975859124 FBXO11 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
RS975916529 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS975947508 KANSL1 Health Risk Pathogenic Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS975947951 WAC Health Risk Likely pathogenic DeSanto-Shinawi syndrome due to WAC point mutation, Nonpapillary renal cell carcinoma
RS975951740 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS975981325 ATXN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ATXN2-related disorder
RS975991506 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS976006680 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS976018078 WNT1 Health Risk Pathogenic —
RS976096963 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS976118697 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS976135721 EMILIN1 Health Risk Pathogenic Arterial tortuosity, Arterial tortuosity-bone fragility syndrome
RS976161721 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS976170143 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS976185636 BTD Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency
RS976187958 TG Health Risk Likely pathogenic —
RS976201466 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS976206096 MAGEL2 Health Risk Conflicting classifications of pathogenicity MAGEL2-related disorder, Inborn genetic diseases
RS976210101 EBP Health Risk Conflicting classifications of pathogenicity Chondrodysplasia punctata 2 X-linked dominant, MEND syndrome
RS976229803 RLBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS976249492 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS976272461 JPH2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS976279218 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS976333015 CFH Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 4, Atypical hemolytic-uremic syndrome
RS976340416 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS976363536 TMPRSS3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8
RS976420096 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS976449430 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS976486198 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome, Noonan syndrome 9
RS976503237 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS976509563 WASHC5 Health Risk Conflicting classifications of pathogenicity Ritscher-Schinzel syndrome, Hereditary spastic paraplegia 8
RS976556567 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS976585767 PDCD10 Health Risk Pathogenic Cerebral cavernous malformation 3, Cerebral cavernous malformation 3
RS976595665 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS976603098 POT1 Health Risk Pathogenic Tumor predisposition syndrome 3, Tumor predisposition syndrome 3
RS976620376 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS976630639 MYBPC3 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4
RS976647697 GCDH Health Risk Likely pathogenic Glutaric aciduria, type 1
RS976654292 ZSWIM6 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with movement abnormalities, abnormal gait
RS976660866 TGM1 Health Risk Likely pathogenic —
RS976670244 PDE6A Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS976688001 NARS1 Health Risk Likely pathogenic Neurodevelopmental disorder with microcephaly, impaired language
RS976705857 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS976725810 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS976734433 FH Health Risk Pathogenic/Likely pathogenic Fumarase deficiency, Hereditary cancer-predisposing syndrome
RS976853535 CLRN1 Health Risk Pathogenic/Likely pathogenic —
RS976882559 COL4A3 Health Risk Pathogenic —
RS976882824 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS976928947 SMARCE1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial meningioma
RS976940687 MSH3 Health Risk Pathogenic Familial adenomatous polyposis 4, Familial adenomatous polyposis 4
RS976950675 ALDH5A1 Health Risk Likely pathogenic Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS977021576 DUOX2 Health Risk Likely pathogenic DUOX2-related disorder, DUOX2-related disorder
RS977038830 MTHFR Health Risk Pathogenic/Likely pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects
RS977061425 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS977075341 EDN3 Health Risk Likely pathogenic Waardenburg syndrome type 4B, Waardenburg syndrome type 4B
RS977093129 FBXO11 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
RS977107435 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RAI1-related disorder
RS977118193 SLC24A5 Health Risk Pathogenic Skin/hair/eye pigmentation, variation in
RS977157885 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
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