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
RS370820880 TONSL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, TONSL-related disorder
RS370821927 LAMC3 Health Risk Conflicting classifications of pathogenicity Occipital pachygyria and polymicrogyria, Occipital pachygyria and polymicrogyria
RS370822722 TRPM1 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1C, Congenital stationary night blindness 1C
RS370823127 POR Health Risk Conflicting classifications of pathogenicity Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS370823171 CDKN2A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial melanoma
RS370823298 NR2E3 Health Risk Likely pathogenic Enhanced S-cone syndrome, Enhanced S-cone syndrome
RS370824570 ALS2 Health Risk Conflicting classifications of pathogenicity ALS2-related disorder, Amyotrophic lateral sclerosis type 2
RS370826757 SLC34A3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive hypophosphatemic bone disease, Inborn genetic diseases
RS370827246 PEX5 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 2B, PEX5-related disorder
RS370827464 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS370828258 VPS53 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 2E, Pontocerebellar hypoplasia type 2E
RS370828455 ZFYVE26 Health Risk Pathogenic Hereditary spastic paraplegia 15, Spastic paraplegia
RS370828525 NTRK1 Health Risk Pathogenic/Likely pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS370830238 PPARG Health Risk Conflicting classifications of pathogenicity PPARG-related familial partial lipodystrophy, Obesity
RS370830603 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS370831760 MCPH1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Microcephaly 1
RS370832130 VPS13C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS370833765 CBLIF Health Risk Conflicting classifications of pathogenicity Hereditary intrinsic factor deficiency, CBLIF-related disorder
RS370834231 PPP2R5D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PPP2R5D-related disorder
RS370834297 MYH9 Health Risk Conflicting classifications of pathogenicity MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17
RS370834972 SLC26A1 Health Risk Conflicting classifications of pathogenicity Hypersulfaturia, Nephrolithiasis susceptibility caused by SLC26A1
RS370834994 C5 Health Risk Conflicting classifications of pathogenicity Eculizumab, poor response to
RS370835373 MYT1L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS370835731 BEST1 Health Risk Pathogenic/Likely pathogenic Vitelliform macular dystrophy 2, Vitelliform macular dystrophy 2
RS370837823 GNPAT Health Risk Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS370837898 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS370837940 ZFYVE26 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 15, Spastic paraplegia
RS370838091 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS370838225 BGN Health Risk Conflicting classifications of pathogenicity BGN-related disorder, BGN-related disorder
RS370838557 KCNMA1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS370838704 CD151 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 7, with nephropathy and deafness
RS370839320 CACNB2 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 4, Brugada syndrome 4
RS370840009 KIAA0753 Health Risk Pathogenic/Likely pathogenic Orofaciodigital syndrome XV, KIAA0753-related disorder
RS370840119 PRKCSH Health Risk Conflicting classifications of pathogenicity Polycystic liver disease 1, Inborn genetic diseases
RS370840449 EMD Health Risk Conflicting classifications of pathogenicity X-linked Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy
RS370841672 IL10RB Health Risk Conflicting classifications of pathogenicity Inflammatory bowel disease 25, Inborn genetic diseases
RS370842354 SARS2 Health Risk Conflicting classifications of pathogenicity Hyperuricemia, pulmonary hypertension
RS370842677 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS370842740 MCPH1 Health Risk Pathogenic Autosomal recessive primary microcephaly, Autosomal recessive primary microcephaly
RS370843758 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, Merosin deficient congenital muscular dystrophy
RS370844834 NPHS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Finnish congenital nephrotic syndrome
RS370845582 SPAST Health Risk Pathogenic —
RS370846070 A2ML1 Health Risk Conflicting classifications of pathogenicity —
RS370847346 XPC Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group C
RS370847523 CTSD Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS370847935 BMP4 Health Risk Conflicting classifications of pathogenicity Microphthalmia with brain and digit anomalies, Orofacial cleft 11
RS370848188 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS370848887 POLA1 Health Risk Conflicting classifications of pathogenicity —
RS370849006 BBS5 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 5
RS370849059 DIAPH1 Health Risk Conflicting classifications of pathogenicity Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1
RS370850432 RAI1 Health Risk Conflicting classifications of pathogenicity RAI1-related disorder, RAI1-related disorder
RS370850456 MEGF10 Health Risk Conflicting classifications of pathogenicity MEGF10-related myopathy, MEGF10-related myopathy
RS370850533 VIPAS39 Health Risk Conflicting classifications of pathogenicity VIPAS39-related disorder, VIPAS39-related disorder
RS370850999 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS370851726 ADSL Health Risk Likely pathogenic Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS370851779 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS370851836 COG5 Health Risk Pathogenic COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS370852681 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS370853512 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS370854023 VWF Health Risk Conflicting classifications of pathogenicity von Willebrand disease type 2, von Willebrand disease type 2
RS370854090 SYN1 Health Risk Conflicting classifications of pathogenicity Epilepsy, X-linked 1
RS370854451 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS370855180 TANC2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS370855899 LDLR Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Familial hypercholesterolemia
RS370856494 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS370857029 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS370857637 PRKCSH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Polycystic liver disease 1
RS370857722 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, 6 conditions
RS370857813 ANKRD1 Health Risk Conflicting classifications of pathogenicity ANKRD1-related dilated cardiomyopathy, Cardiovascular phenotype
RS370857842 GNPTG Health Risk Conflicting classifications of pathogenicity GNPTG-mucolipidosis, GNPTG-mucolipidosis
RS370857858 SCN1A Health Risk Conflicting classifications of pathogenicity Generalized epilepsy with febrile seizures plus, type 2
RS370858405 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS370858630 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS370859689 PCDH19 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 9
RS370860479 MYH9 Health Risk Conflicting classifications of pathogenicity MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17
RS370860489 RP1 Health Risk Pathogenic —
RS370861322 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS370861594 ATP6V0A4 Health Risk Pathogenic/Likely pathogenic Renal tubular acidosis, distal
RS370861938 LOX Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 10
RS370862113 KCNMA1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS370862426 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS370862494 ERCC2 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group D
RS370862741 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS370862961 CTSC Health Risk Conflicting classifications of pathogenicity Haim-Munk syndrome, Papillon-Lefèvre syndrome
RS370863694 TPI1 Health Risk Conflicting classifications of pathogenicity Triosephosphate isomerase deficiency, TPI1-related disorder
RS370863743 RMND1 Health Risk Pathogenic Mitochondrial disease, Combined oxidative phosphorylation defect type 11
RS370864445 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS370864802 ARFGEF2 Health Risk Conflicting classifications of pathogenicity Periventricular heterotopia with microcephaly, autosomal recessive
RS370865082 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS370865189 COL1A1 Health Risk Conflicting classifications of pathogenicity Infantile cortical hyperostosis, Osteogenesis imperfecta
RS370865328 POR Health Risk Conflicting classifications of pathogenicity Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS370865377 EPOR Health Risk Conflicting classifications of pathogenicity —
RS370865499 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS370865998 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS370866302 TRIT1 Health Risk Pathogenic/Likely pathogenic Combined oxidative phosphorylation deficiency 35, Combined oxidative phosphorylation deficiency 35
RS370866476 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS370866578 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS370866589 SMOC1 Health Risk Pathogenic Microphthalmia with limb anomalies, Microphthalmia with limb anomalies
RS370867825 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS370868080 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
« Prev 1 ... 2666 2667 2668 2669 2670 2671 2672 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →