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
RS886043378 PYCR2 Health Risk Pathogenic/Likely pathogenic Hypomyelinating leukodystrophy 10, Hypomyelinating leukodystrophy 10
RS886043381 GDF6 Health Risk Conflicting classifications of pathogenicity Microphthalmia, isolated
RS886043388 GPR179 Health Risk Pathogenic —
RS886043390 GALT Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS886043392 SGCA Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS886043399 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS886043401 FKRP Health Risk Pathogenic/Likely pathogenic Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS886043402 TNPO3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F
RS886043403 COL6A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS886043405 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS886043409 POMGNT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS886043410 COL2A1 Health Risk Pathogenic Stickler syndrome type 1, Stickler syndrome
RS886043412 TECTA Health Risk Conflicting classifications of pathogenicity —
RS886043414 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS886043417 MAK Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 62, Retinitis pigmentosa 62
RS886043418 CFI Health Risk Pathogenic/Pathogenic, low penetrance Atypical hemolytic-uremic syndrome, Age related macular degeneration 13
RS886043419 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS886043423 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS886043428 DMD Health Risk Pathogenic —
RS886043432 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS886043433 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS886043434 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS886043437 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy
RS886043440 USH2A Health Risk Conflicting classifications of pathogenicity —
RS886043441 LOXHD1 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS886043445 VPS33B Health Risk Pathogenic —
RS886043448 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS886043451 JAG1 Health Risk Pathogenic —
RS886043453 CDKL5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 2
RS886043454 ATP1A2 Health Risk Conflicting classifications of pathogenicity Familial hemiplegic migraine, Familial hemiplegic migraine
RS886043455 KCNT1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 14
RS886043456 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS886043459 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS886043460 SGCD Health Risk Pathogenic —
RS886043462 TTN Health Risk Likely pathogenic TTN-related disorder, Dilated cardiomyopathy 1G
RS886043463 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS886043464 SMCHD1 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS886043466 TTLL5 Health Risk Likely pathogenic —
RS886043467 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS886043473 OPA1 Health Risk Conflicting classifications of pathogenicity —
RS886043476 KDM6A Health Risk Pathogenic —
RS886043477 SLC45A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS886043479 PEX1 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 1B, Zellweger spectrum disorders
RS886043487 ASXL3 Health Risk Pathogenic —
RS886043488 GPR179 Health Risk Pathogenic/Likely pathogenic Congenital stationary night blindness, Congenital stationary night blindness
RS886043489 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS886043491 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS886043493 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiomyopathy
RS886043494 STAMBP Health Risk Pathogenic —
RS886043495 KMT2D Health Risk Pathogenic —
RS886043496 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS886043497 KMT2D Health Risk Pathogenic/Likely pathogenic Kabuki syndrome 1, Kabuki syndrome
RS886043499 MPDZ Health Risk Pathogenic —
RS886043504 PLP1 Health Risk Conflicting classifications of pathogenicity —
RS886043505 KMT2D Health Risk Pathogenic —
RS886043506 KMT2D Health Risk Pathogenic/Likely pathogenic Kabuki syndrome 1, Inborn genetic diseases
RS886043511 HSD3B7 Health Risk Pathogenic HSD3B7-related disorder, HSD3B7-related disorder
RS886043512 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, CYP27A1-related disorder
RS886043514 OCA2 Health Risk Conflicting classifications of pathogenicity SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
RS886043519 COL6A3 Health Risk Pathogenic —
RS886043521 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS886043524 MCCC2 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS886043529 ASPM Health Risk Conflicting classifications of pathogenicity —
RS886043532 SCN1A Health Risk Pathogenic —
RS886043534 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Inborn genetic diseases
RS886043540 COL2A1 Health Risk Likely pathogenic Spondyloperipheral dysplasia, Spondyloperipheral dysplasia
RS886043548 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS886043551 NEFL Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2E
RS886043552 ARX Health Risk Pathogenic X-linked lissencephaly with abnormal genitalia, X-linked lissencephaly with abnormal genitalia
RS886043553 TRIM32 Health Risk Likely pathogenic —
RS886043554 COL6A2 Health Risk Pathogenic/Likely pathogenic Ullrich congenital muscular dystrophy 1B, Bethlem myopathy 1A
RS886043555 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS886043556 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Inborn genetic diseases
RS886043558 PEX1 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)
RS886043559 RAPSN Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11
RS886043561 COL2A1 Health Risk Pathogenic/Likely pathogenic —
RS886043565 PEX5 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
RS886043571 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS886043572 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS886043573 CRPPA Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2U, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS886043576 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A3-related disorder
RS886043582 TRPS1 Health Risk Conflicting classifications of pathogenicity Trichorhinophalangeal syndrome, type III
RS886043584 PHEX Health Risk Pathogenic —
RS886043587 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS886043590 LRP5 Health Risk Pathogenic Exudative vitreoretinopathy 4, Osteoporosis with pseudoglioma
RS886043593 PKHD1 Health Risk Pathogenic —
RS886043595 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS886043597 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS886043598 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS886043603 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS886043605 JAG1 Health Risk Likely pathogenic JAG1-related disorder, JAG1-related disorder
RS886043606 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, JAG1-related disorder
RS886043609 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Inborn genetic diseases
RS886043610 CUL7 Health Risk Conflicting classifications of pathogenicity —
RS886043612 UBE3A Health Risk Pathogenic —
RS886043613 FGFR3 Health Risk Conflicting classifications of pathogenicity Genu varum, Short stature
RS886043616 LOXHD1 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 77, LOXHD1-related disorder
RS886043619 FOXN1 Health Risk Likely pathogenic —
RS886043620 DCTN1 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS886043622 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
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