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
RS142960268 ANO6 Health Risk Conflicting classifications of pathogenicity —
RS1429603095 MMADHC Health Risk Likely pathogenic Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblD
RS142961139 PIGQ Health Risk Conflicting classifications of pathogenicity Epilepsy, Inborn genetic diseases
RS142961295 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, Charcot-Marie-Tooth disease axonal type 2O
RS1429625290 BCL11B Health Risk Likely pathogenic BCL11B-related disorder, BCL11B-related disorder
RS1429628044 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS142963320 DNM2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant centronuclear myopathy, Charcot-Marie-Tooth disease dominant intermediate B
RS1429635931 MYO1E Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 6, Focal segmental glomerulosclerosis 6
RS142964161 VPS33B Health Risk Conflicting classifications of pathogenicity VPS33B-related disorder, VPS33B-related disorder
RS142964907 CACNA2D4 Health Risk Conflicting classifications of pathogenicity Retinal cone dystrophy 4, Retinal cone dystrophy 4
RS142965739 DHX37 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1429658299 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1429663478 GYG1 Health Risk Pathogenic Polyglucosan body myopathy type 2, Glycogen storage disease XV
RS1429666367 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS142967431 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiomyopathy
RS142967546 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS142967670 GCDH Health Risk Likely pathogenic Glutaric aciduria, type 1
RS142967869 BCKDHA Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease type 1A
RS142968004 MAP3K1 Health Risk Conflicting classifications of pathogenicity 46, XY sex reversal 6
RS142968179 NMNAT1 Health Risk Pathogenic Leber congenital amaurosis 9, Retinal dystrophy
RS1429685364 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1429686948 PAK3 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 30
RS142969513 COL11A2 Health Risk Conflicting classifications of pathogenicity COL11A2-related disorder, COL11A2-related disorder
RS142969794 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS142969817 AGXT Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria, type I
RS1429699993 ACTA1 Health Risk Pathogenic Congenital myopathy 2b, severe infantile
RS142970891 COG5 Health Risk Conflicting classifications of pathogenicity COG5-congenital disorder of glycosylation, COG5-related disorder
RS142971473 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease
RS142971568 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS142972003 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia
RS142972252 DCHS1 Health Risk Conflicting classifications of pathogenicity —
RS142973956 TTN Health Risk Conflicting classifications of pathogenicity —
RS1429743956 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS1429744029 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiomyopathy
RS142974468 DNAJB6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), DNAJB6-related disorder
RS142974512 COL9A2 Health Risk Conflicting classifications of pathogenicity Epiphyseal dysplasia, multiple
RS142974898 PLA2G7 Health Risk Likely pathogenic Platelet-activating factor acetylhydrolase deficiency, Platelet-activating factor acetylhydrolase deficiency
RS1429753961 LCA5 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS142975997 PSAT1 Health Risk Conflicting classifications of pathogenicity PSAT deficiency, Neu-Laxova syndrome 2
RS1429774361 FARS2 Health Risk Pathogenic Combined oxidative phosphorylation defect type 14, Combined oxidative phosphorylation defect type 14
RS142977481 RSPH4A Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 11
RS1429774833 MTTP Health Risk Pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS142977595 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis
RS142978180 SNTA1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS142978552 TWNK Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Hereditary spastic paraplegia
RS1429786931 RPGRIP1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Leber congenital amaurosis 6
RS142979576 SLC6A19 Health Risk Pathogenic Neutral 1 amino acid transport defect, SLC6A19-related disorder
RS1429797650 CNGB1 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1429807175 GUCY2D Health Risk Likely pathogenic Leber congenital amaurosis 1, GUCY2D-related recessive retinopathy
RS142980820 CDHR1 Health Risk Pathogenic/Likely pathogenic Cone-rod dystrophy, Cone-rod dystrophy
RS142980928 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS142981128 TP63 Health Risk Conflicting classifications of pathogenicity TP63-Related Spectrum Disorders, 7 conditions
RS142981190 BAG3 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS142981643 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RAI1-related disorder
RS1429820082 TRIP11 Health Risk Pathogenic Odontochondrodysplasia 1, Odontochondrodysplasia 1
RS142982022 NDUFV1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS142982097 PCCB Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Propionic acidemia
RS1429834722 DOCK2 Health Risk Likely pathogenic DOCK2 deficiency, Acute myeloid leukemia
RS142983846 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, LYST-related disorder
RS142984207 DHCR24 Health Risk Conflicting classifications of pathogenicity Desmosterolosis, Desmosterolosis
RS142984971 CENPF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CENPF-related disorder
RS142985368 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS142985827 MERTK Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS1429859627 NEFL Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 1F, Charcot-Marie-Tooth disease type 2E
RS1429861000 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS142986380 GFM2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, GFM2-related disorder
RS142986673 CAMTA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142986731 SLC2A1 Health Risk Conflicting classifications of pathogenicity GLUT1 deficiency syndrome 1, autosomal recessive
RS1429870785 FANCI Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS142987669 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spastic paraplegia
RS1429887811 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS142988897 OCA2 Health Risk Pathogenic/Likely pathogenic Tyrosinase-positive oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 1
RS142989562 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS1429901248 CYP21A2 Health Risk Likely pathogenic ADRENAL HYPERPLASIA, CONGENITAL
RS142990298 EIF4E Health Risk risk factor Autism, susceptibility to
RS142990800 WHRN Health Risk Conflicting classifications of pathogenicity WHRN-related disorder, WHRN-related disorder
RS1429910910 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1429912526 OCA2 Health Risk Pathogenic —
RS142991278 SLC29A3 Health Risk Conflicting classifications of pathogenicity H syndrome, Inborn genetic diseases
RS142991475 FLG Health Risk Pathogenic Ichthyosis vulgaris, Ichthyosis vulgaris
RS142992009 MYH6 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 14
RS1429930469 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS142993088 CENPF Health Risk Conflicting classifications of pathogenicity CENPF-related disorder, CENPF-related disorder
RS142993548 GATA2 Health Risk Conflicting classifications of pathogenicity Monocytopenia with susceptibility to infections, Deafness-lymphedema-leukemia syndrome
RS1429943036 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS142994455 CLCN1 Health Risk Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
RS142994610 PEX1 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 1A (Zellweger), Heimler syndrome 1
RS142995404 POMT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS1429956058 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS142996063 MRE11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1
RS142996507 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, MYO15A-related disorder
RS142996620 CRYBB3 Health Risk Conflicting classifications of pathogenicity Cataract 22 multiple types, Inborn genetic diseases
RS1429977258 ARID1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1429978132 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS142997921 IFNGR2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 28, Inborn genetic diseases
RS142998256 IL12B Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
RS1429983092 SETBP1 Health Risk Conflicting classifications of pathogenicity —
RS143000899 ROGDI Health Risk Conflicting classifications of pathogenicity Amelocerebrohypohidrotic syndrome, Amelocerebrohypohidrotic syndrome
RS1430011321 CDK13 Health Risk Conflicting classifications of pathogenicity —
RS143001503 NAF1 Health Risk Conflicting classifications of pathogenicity NAF1-related disorder, NAF1-related disorder
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