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
RS1192750535 COL4A3 Health Risk Pathogenic/Likely pathogenic Autosomal dominant Alport syndrome, Hematuria
RS1192804794 BBS2 Health Risk Likely pathogenic Bardet-Biedl syndrome 2, Bardet-Biedl syndrome 2
RS1192808191 LIG3 Health Risk Pathogenic Mitochondrial DNA depletion syndrome 20 (mngie type), Mitochondrial DNA depletion syndrome 20 (mngie type)
RS1192810508 USH2A Health Risk Pathogenic —
RS1192824648 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS1192828749 SELENON Health Risk Pathogenic Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS1192830343 IL10RA Health Risk Likely pathogenic Inflammatory bowel disease 28, Inflammatory bowel disease 28
RS1192889987 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1192921623 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS1192927373 SIX5 Health Risk Conflicting classifications of pathogenicity Branchiootorenal syndrome 2, Branchiootorenal syndrome 2
RS1192927951 SLC17A5 Health Risk Pathogenic/Likely pathogenic Salla disease, Sialic acid storage disease
RS1192976748 CDK4 Health Risk Conflicting classifications of pathogenicity Familial melanoma, Melanoma
RS1192977984 ACTG1 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2
RS1192991504 CEP152 Health Risk Likely pathogenic —
RS1193008774 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS1193014025 RELA;SIPA1 Health Risk Pathogenic/Likely pathogenic Mucocutaneous ulceration, chronic
RS1193023501 OTOG Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS1193025774 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1193030161 FAH Health Risk Pathogenic Tyrosinemia type I, Tyrosinemia type I
RS1193044740 SETBP1 Health Risk Conflicting classifications of pathogenicity —
RS1193046655 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1193050076 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS1193076988 KMT2D Health Risk Pathogenic/Likely pathogenic Kabuki syndrome, Kabuki syndrome
RS1193080627 COL4A5 Health Risk Conflicting classifications of pathogenicity X-linked Alport syndrome, X-linked Alport syndrome
RS1193085446 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS1193100543 SLC12A1 Health Risk Pathogenic —
RS1193102070 SLC10A2 Health Risk Conflicting classifications of pathogenicity —
RS1193147148 NR2F1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1193152104 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1193156869 BRSK2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1193170151 KCNJ11 Health Risk Likely risk allele Type 2 diabetes mellitus, Diabetes mellitus
RS1193187457 TTLL5 Health Risk Pathogenic —
RS1193188647 TOR1AIP1 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2Y, Autosomal recessive limb-girdle muscular dystrophy type 2Y
RS1193193335 SYNE1 Health Risk Likely pathogenic Autosomal recessive ataxia, Beauce type
RS1193196213 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1193209124 SMC3 Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3
RS1193212091 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1193212374 STAG1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1193230553 PLCE1 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 3
RS1193235415 IVD Health Risk Pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS1193236223 OBSL1 Health Risk Conflicting classifications of pathogenicity —
RS1193250444 VPS13A Health Risk Pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS1193255946 MAX Health Risk Pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
RS1193273261 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS1193276126 PCLO Health Risk Pathogenic —
RS1193321501 PKLR Health Risk Pathogenic/Likely pathogenic Pyruvate kinase deficiency of red cells, Pyruvate kinase deficiency of red cells
RS1193333328 EMC1 Health Risk Pathogenic —
RS1193344118 AGXT Health Risk Likely pathogenic Primary hyperoxaluria, type I
RS1193362044 CARD14 Health Risk Conflicting classifications of pathogenicity Pityriasis rubra pilaris, Psoriasis 2
RS1193381168 ITGB3 Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS1193393493 RBM20 Health Risk Likely pathogenic Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS1193422410 WDR62 Health Risk Pathogenic/Likely pathogenic Microcephaly 2, primary
RS1193437955 ADSL Health Risk Pathogenic Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS1193442541 CPT1A Health Risk Likely pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS1193442920 WDR81 Health Risk Likely pathogenic —
RS1193449236 HEPACAM Health Risk Pathogenic —
RS1193450930 UNC80 Health Risk Likely pathogenic —
RS11934801 IDUA Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS1193507525 COL2A1 Health Risk Likely pathogenic —
RS1193521522 GABRA3 Health Risk Pathogenic Epilepsy, X-linked 2
RS1193527567 MED13L Health Risk Conflicting classifications of pathogenicity Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Dextro-looped transposition of the great arteries
RS1193539062 GLE1 Health Risk Pathogenic —
RS1193551446 SLC22A5 Health Risk Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS1193552867 CBL Health Risk Conflicting classifications of pathogenicity Noonan syndrome and Noonan-related syndrome, RASopathy
RS1193560701 SCLT1 Health Risk Pathogenic —
RS1193573653 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1193577545 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1193586811 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Respiratory ciliopathies including non-CF bronchiectasis
RS1193598969 LDLR Health Risk Likely pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS1193604660 PRPF8 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS1193616870 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1193624610 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
RS1193631220 RPE65 Health Risk Likely pathogenic Leber congenital amaurosis 2, RPE65-related recessive retinopathy
RS1193634362 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2S
RS1193643554 TSPEAR Health Risk Pathogenic/Likely pathogenic —
RS1193645872 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS1193650682 PCDH15 Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23
RS1193689718 PKLR Health Risk Pathogenic Pyruvate kinase deficiency of red cells, Pyruvate kinase deficiency of red cells
RS1193700814 PFKM Health Risk Likely pathogenic Glycogen storage disease, type VII
RS1193716348 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1193718145 SPTAN1 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1193718748 NHLRC1 Health Risk Pathogenic Lafora disease, Lafora disease
RS1193723455 GRIA3 Health Risk Conflicting classifications of pathogenicity Syndromic X-linked intellectual disability 94, Syndromic X-linked intellectual disability 94
RS1193726585 ETFB Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS1193742702 PRPF3 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 18, Retinitis pigmentosa 18
RS1193762201 MEN1 Health Risk Likely pathogenic Multiple endocrine neoplasia, type 1
RS1193780362 LBR Health Risk Pathogenic —
RS1193790186 NPHP1 Health Risk Likely pathogenic Joubert syndrome with renal defect, Joubert syndrome with renal defect
RS1193795003 MITF Health Risk Conflicting classifications of pathogenicity Waardenburg syndrome type 2A, Tietz syndrome
RS1193817827 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1193841505 NHLRC1 Health Risk Pathogenic Lafora disease, Lafora disease
RS1193854376 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa
RS1193858183 SURF1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex IV deficiency, nuclear type 1
RS1193865095 PANK2 Health Risk Pathogenic/Likely pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS1193865484 ABCA4 Health Risk Pathogenic —
RS1193871694 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS1193875216 KCNT1 Health Risk Conflicting classifications of pathogenicity See cases, Developmental and epileptic encephalopathy
RS1193875824 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS1193888919 SASS6 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1193906930 SLX4 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
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