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
RS895624584 TTC21B Health Risk Pathogenic/Likely pathogenic Jeune thoracic dystrophy, Nephronophthisis
RS895635914 P3H2 Health Risk Pathogenic/Likely pathogenic —
RS895669204 ASAH1 Health Risk Likely pathogenic Farber lipogranulomatosis, Farber lipogranulomatosis
RS895690691 PFKM Health Risk Pathogenic Glycogen storage disease, type VII
RS895691193 COL5A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS895701604 COL6A3 Health Risk Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS895704914 MC4R Health Risk Pathogenic MC4R-related disorder, MC4R-related disorder
RS895722334 RTEL1 Health Risk Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS895731667 PKD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS895743403 FAH Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, Inborn genetic diseases
RS895744093 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS895744220 TTN Health Risk Likely pathogenic TTN-related disorder, Dilated cardiomyopathy 1G
RS895744368 NTHL1 Health Risk Pathogenic Familial adenomatous polyposis 3, Familial adenomatous polyposis 3
RS895752312 ATP6AP2 Health Risk Conflicting classifications of pathogenicity Syndromic X-linked intellectual disability Hedera type, Syndromic X-linked intellectual disability Hedera type
RS895755247 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS895758995 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS895774521 B3GAT3 Health Risk Likely pathogenic Larsen-like syndrome, B3GAT3 type
RS895782232 PLCE1 Health Risk Pathogenic Nephrotic syndrome, type 3
RS895801743 STAT3 Health Risk Conflicting classifications of pathogenicity Hyper-IgE recurrent infection syndrome 1, autosomal dominant
RS895822620 ASS1 Health Risk Conflicting classifications of pathogenicity Citrullinemia type I, Citrullinemia
RS895823217 HPD Health Risk Pathogenic Hawkinsinuria, Tyrosinemia type III
RS895824243 OPTN Health Risk Conflicting classifications of pathogenicity Motor neuron disease, Amyotrophic lateral sclerosis type 12
RS895837661 KCNT2 Health Risk Likely pathogenic KCNT2-related disorder, KCNT2-related disorder
RS895881881 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS895911431 ATP2A1 Health Risk Pathogenic Brody myopathy, Brody myopathy
RS895935495 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS895972070 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS895985294 PSMB8 Health Risk Pathogenic Proteasome-associated autoinflammatory syndrome 1, Proteasome-associated autoinflammatory syndrome 1
RS896004429 HSPB1 Health Risk Pathogenic —
RS896011451 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS896013015 SLC6A1 Health Risk Likely pathogenic —
RS896032166 GRIN2D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS896036433 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS896037493 BUB1B Health Risk Conflicting classifications of pathogenicity Ovarian cancer, Inborn genetic diseases
RS896056101 TRAPPC11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal recessive limb-girdle muscular dystrophy type R18
RS896069835 RELN Health Risk Conflicting classifications of pathogenicity Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS896080306 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS896105030 DYNC2H1 Health Risk Likely pathogenic Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS896144215 PEX6 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder, PEX6-related disorder
RS896151271 ATP7A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, X-linked distal spinal muscular atrophy type 3
RS896155784 PIK3AP1 Health Risk Conflicting classifications of pathogenicity Infantile spasms, Infantile spasms
RS896155950 KMT2B Health Risk Conflicting classifications of pathogenicity —
RS896160584 CRB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS896210352 MCOLN1 Health Risk Pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS896214992 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS896312288 ZNF469 Health Risk Conflicting classifications of pathogenicity ZNF469-related disorder, Brittle cornea syndrome 1
RS896349825 KCNB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 26
RS896351318 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS896357448 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS896431562 GDAP1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A
RS896435221 ZSWIM6 Health Risk Conflicting classifications of pathogenicity Acromelic frontonasal dysostosis, Neurodevelopmental disorder with movement abnormalities
RS896444437 FIG4 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, See cases
RS896484588 TTLL5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS896487590 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS896495198 SLC45A2 Health Risk Pathogenic/Likely pathogenic Oculocutaneous albinism type 4, SKIN/HAIR/EYE PIGMENTATION 5
RS896504353 ZSWIM6 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with movement abnormalities, abnormal gait
RS896524026 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS896545456 SLC12A1 Health Risk Pathogenic/Likely pathogenic Nephrolithiasis, Nephrocalcinosis
RS896550845 PNP Health Risk Pathogenic Purine-nucleoside phosphorylase deficiency, Purine-nucleoside phosphorylase deficiency
RS896569937 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related disorder
RS896573950 KMT2C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS896581899 EVC Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS896587785 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS896594939 MAP2K1 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS896634334 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Renal carnitine transport defect
RS896655703 ZFYVE26 Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS896755457 SLC29A3 Health Risk Conflicting classifications of pathogenicity H syndrome, H syndrome
RS896789657 KIAA0586 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly
RS896905338 JAK3 Health Risk Conflicting classifications of pathogenicity T-B+ severe combined immunodeficiency due to JAK3 deficiency, Inborn genetic diseases
RS896947430 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS896979080 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS897040629 PIK3R2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
RS897070017 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS897070997 TGFB2 Health Risk Pathogenic Loeys-Dietz syndrome 4, Loeys-Dietz syndrome 4
RS897090338 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS897112748 NDUFAF6 Health Risk Conflicting classifications of pathogenicity —
RS897128993 ANKS6 Health Risk Likely pathogenic Nephronophthisis 16, Nephronophthisis 16
RS897132425 MBD4 Health Risk Pathogenic MBD4-related disorder, Inborn genetic diseases
RS897158533 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS897166414 POLD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS897171604 NPR2 Health Risk Likely pathogenic Inborn genetic diseases, NPR2-related disorder
RS897174401 PCNT Health Risk Pathogenic —
RS897196091 PROC Health Risk Pathogenic Thrombophilia due to protein C deficiency, autosomal dominant
RS897203855 PINK1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive early-onset Parkinson disease 6, Inborn genetic diseases
RS897222563 ARG1 Health Risk Likely pathogenic Arginase deficiency, Arginase deficiency
RS897259743 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS897262346 BLM Health Risk Likely pathogenic Bloom syndrome, Bloom syndrome
RS897280623 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, ankyrin-B-related
RS897301304 ATP2A1 Health Risk Pathogenic/Likely pathogenic Brody myopathy, Brody myopathy
RS897320496 FREM2 Health Risk Pathogenic —
RS897344189 ABCG5 Health Risk Conflicting classifications of pathogenicity Sitosterolemia 2, Cardiovascular phenotype
RS897423429 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS897448432 SCN4A Health Risk Likely pathogenic Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS897453553 WWOX Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
RS897456214 IARS2 Health Risk Pathogenic —
RS897487519 NBAS Health Risk Conflicting classifications of pathogenicity Infantile liver failure syndrome 2, Infantile liver failure syndrome 2
RS897504760 ALDH7A1 Health Risk Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy, Inborn genetic diseases
RS897518524 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS897535441 ERCC8 Health Risk Pathogenic/Likely pathogenic Cockayne syndrome type 1, Cockayne syndrome type 1
RS897584290 CFAP53 Health Risk Likely pathogenic Heterotaxy, visceral
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