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
RS112433506 CAPN12 Health Risk Conflicting classifications of pathogenicity CAPN12-related disorder, CAPN12-related disorder
RS1124336 IGHMBP2 Health Risk Likely pathogenic Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS112436148 SH3PXD2B Health Risk Conflicting classifications of pathogenicity Frank-Ter Haar syndrome, Frank-Ter Haar syndrome
RS112442277 ATP6V1B1 Health Risk Conflicting classifications of pathogenicity Renal tubular acidosis with progressive nerve deafness, Renal tubular acidosis with progressive nerve deafness
RS112445441 KRAS Health Risk Pathogenic Breast adenocarcinoma, Non-small cell lung carcinoma
RS112446147 FBP1 Health Risk Conflicting classifications of pathogenicity Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
RS112450383 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS112454391 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS112454576 FAT4 Health Risk Conflicting classifications of pathogenicity —
RS112456072 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS112457919 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS112460511 PLOD1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS112462309 SPTB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS112463030 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS112464743 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS112465572 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2
RS112467954 MYH11;NDE1 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Aortic aneurysm
RS112469662 AKAP1 Health Risk Conflicting classifications of pathogenicity —
RS112473525 DST Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS112474181 IMPG1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS112478200 CARD14 Health Risk Conflicting classifications of pathogenicity Psoriasis 2, Pityriasis rubra pilaris
RS112478479 IFITM5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS112478925 CTNNA1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS112484439 TTN Health Risk Conflicting classifications of pathogenicity Areflexia of lower limbs, Spinal rigidity
RS112487236 OBSL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, 3M syndrome 2
RS112495985 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS112496709 ATL1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 3A, Inborn genetic diseases
RS112497256 LIPE Health Risk Conflicting classifications of pathogenicity LIPE-related disorder, LIPE-related disorder
RS112497464 GNAI2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS112498048 CPT1A Health Risk Likely pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS112500113 SMCHD1 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS112500642 SGCA Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS112508527 HMGCL Health Risk Likely pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS112514198 MXRA5 Health Risk Conflicting classifications of pathogenicity —
RS112515579 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS112516305 DMD Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Duchenne muscular dystrophy
RS112517802 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS112517981 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS112518413 MGP Health Risk Pathogenic Keutel syndrome, Keutel syndrome
RS112518450 MYPN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1KK, MYPN-related myopathy
RS112520386 NR2E3 Health Risk Conflicting classifications of pathogenicity Enhanced S-cone syndrome, Retinitis pigmentosa
RS112525060 SMC3 Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 3, Inborn genetic diseases
RS112528230 SLC34A1 Health Risk Conflicting classifications of pathogenicity Hypophosphatemic nephrolithiasis/osteoporosis 1, Hypophosphatemic nephrolithiasis/osteoporosis 1
RS112530241 PLEKHG5 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy
RS112532092 HR Health Risk Conflicting classifications of pathogenicity Atrichia with papular lesions, Alopecia universalis congenita
RS112532429 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiomyopathy
RS112532745 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS112534511 MYH11 Health Risk Pathogenic/Likely pathogenic Megacystis, microcolon
RS112536447 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, History of neurodevelopmental disorder
RS112537316 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS112540218 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS112540686 SOS1 Health Risk Conflicting classifications of pathogenicity Fibromatosis, gingival
RS112541306 MERTK Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS112543062 GNPTAB Health Risk Conflicting classifications of pathogenicity Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS11254385 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome type 1
RS112544116 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS112545558 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinal dystrophy
RS112546213 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS112547596 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS112549590 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS112549942 SKI Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome
RS112550005 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS112553035 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS112553480 PPT1 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 1, Inborn genetic diseases
RS112558253 C1S Health Risk Likely pathogenic —
RS112559031 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS112561258 TOR1AIP1 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2Y, Autosomal recessive limb-girdle muscular dystrophy type 2Y
RS112563513 RYR1 Health Risk Likely pathogenic RYR1-related disorder, halothane response - Toxicity
RS112563989 ADAR Health Risk Likely pathogenic Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6
RS112564682 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS112564762 ABAT Health Risk Conflicting classifications of pathogenicity Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS112565881 SERPING1 Health Risk Pathogenic Hereditary angioedema type 1, Hereditary angioedema type 1
RS112566465 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS112568651 SLC39A14 Health Risk Conflicting classifications of pathogenicity SLC39A14-related disorder, Nonpapillary renal cell carcinoma
RS112573051 INVS Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Infantile nephronophthisis
RS112573107 CNGB3 Health Risk Conflicting classifications of pathogenicity Achromatopsia 3, Severe early-childhood-onset retinal dystrophy
RS112575270 ERLIN2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS112576957 SPINT2 Health Risk Pathogenic Congenital secretory sodium diarrhea 3, Congenital secretory sodium diarrhea 3
RS112589404 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS112592855 PKP2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Primary familial hypertrophic cardiomyopathy
RS112594597 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS112597191 MYO6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22
RS112597942 NRAP Health Risk Conflicting classifications of pathogenicity NRAP-related disorder, NRAP-related disorder
RS112598170 WFS1 Health Risk Conflicting classifications of pathogenicity WFS1-Related Spectrum Disorders, Autosomal dominant nonsyndromic hearing loss 6
RS112602953 ACTA2 Health Risk Pathogenic Aortic aneurysm, familial thoracic 6
RS112604556 EARS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS112609906 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS112610898 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS112610938 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS112611398 COG7 Health Risk Conflicting classifications of pathogenicity COG7 congenital disorder of glycosylation, COG7 congenital disorder of glycosylation
RS112613526 SAG Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Oguchi disease
RS112614087 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS112615033 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS112618498 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS112626848 CAV3 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiomyopathy
RS112630127 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS112631930 CDHR1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 15, Retinal dystrophy
RS112633352 PCNT Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS112634620 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS112634925 OTOG Health Risk Conflicting classifications of pathogenicity OTOG-related disorder, OTOG-related disorder
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