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
RS192312429 WDR45 Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 5, Inborn genetic diseases
RS192313594 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS192317605 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS192324175 ZNF516 Health Risk Conflicting classifications of pathogenicity —
RS192325588 VANGL1 Health Risk Conflicting classifications of pathogenicity Neural tube defect, Sacral defect with anterior meningocele
RS192326086 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Usher syndrome type 1
RS192327462 FBXO7 Health Risk Conflicting classifications of pathogenicity Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome
RS192332761 SDHD Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS192335285 TGFB2 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 4, Familial thoracic aortic aneurysm and aortic dissection
RS192335673 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, Orofaciodigital syndrome type 6
RS192337215 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS192338518 PROM1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal macular dystrophy type 2
RS192344487 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, CYP27A1-related disorder
RS192345324 DNAH14 Health Risk Conflicting classifications of pathogenicity —
RS192346180 MTR Health Risk Likely pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS192346335 FRMD7 Health Risk Conflicting classifications of pathogenicity Nystagmus 1, congenital
RS192346663 SCN4A Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 2
RS192347853 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PIEZO1-related disorder
RS1923506408 FGD1 Health Risk Pathogenic —
RS1923512525 FGD1 Health Risk Pathogenic —
RS192358667 CC2D1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Uterine corpus endometrial carcinoma
RS192360370 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS192362302 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS1923640463 CUL4B Health Risk Pathogenic —
RS192366176 SLC26A4 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome
RS192372022 NEK1 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 6 with or without polydactyly, Connective tissue disorder
RS192375476 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, ABCB11-related disorder
RS192376005 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, LOXHD1-related disorder
RS1923775114 CLCN4 Health Risk Pathogenic Intellectual disability, X-linked 49
RS192378817 MYO7A Health Risk Conflicting classifications of pathogenicity Deafness, Hearing loss
RS192379242 SCN5A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Long QT syndrome 3
RS192379299 MYO18B Health Risk Conflicting classifications of pathogenicity —
RS192383756 ARFGEF2 Health Risk Conflicting classifications of pathogenicity Periventricular heterotopia with microcephaly, autosomal recessive
RS1923859591 TBX22 Health Risk Likely pathogenic —
RS192391568 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS192392819 ORC1 Health Risk Conflicting classifications of pathogenicity —
RS192398905 TGFBI Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy
RS1924000101 CUL4B Health Risk Likely pathogenic X-linked intellectual disability Cabezas type, X-linked intellectual disability Cabezas type
RS192402741 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, NEB-related disorder
RS1924061524 CLCN4 Health Risk Likely pathogenic Intellectual disability, X-linked 49
RS1924062420 TRIOBP Health Risk Pathogenic —
RS192411379 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Autosomal recessive Alport syndrome
RS1924147806 ACSL4 Health Risk Likely pathogenic Intellectual disability, X-linked 63
RS1924181543 CHM Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1924186486 CHM Health Risk Pathogenic —
RS192419029 VPS35 Health Risk Conflicting classifications of pathogenicity Parkinson disease 17, Parkinson disease 17
RS1924190333 CHM Health Risk Pathogenic —
RS1924193863 CHM Health Risk Pathogenic Choroideremia, Retinal dystrophy
RS1924195176 CHM Health Risk Pathogenic —
RS192420947 ADAMTS9 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS1924222609 LZTR1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1924223700 LZTR1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1924227635 LZTR1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 10, Hereditary cancer-predisposing syndrome
RS192423622 TINF2 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, TINF2-related disorder
RS1924243873 SMS Health Risk Likely pathogenic Syndromic X-linked intellectual disability Snyder type, Syndromic X-linked intellectual disability Snyder type
RS1924255143 LZTR1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1924256257 LZTR1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1924256984 LZTR1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1924258572 LZTR1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1924258957 LZTR1 Health Risk Likely pathogenic LZTR1-related schwannomatosis, LZTR1-related schwannomatosis
RS192426710 GPR179 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1E, Inborn genetic diseases
RS192432193 DNAAF1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1924346959 CUL4B Health Risk Likely pathogenic —
RS1924362561 LZTR1 Health Risk Conflicting classifications of pathogenicity LZTR1-related disorder, LZTR1-related disorder
RS192436436 CYP4V2 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Bietti crystalline corneoretinal dystrophy
RS1924364964 LZTR1 Health Risk Likely pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1924365049 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1924392577 CLCN4 Health Risk Likely pathogenic —
RS1924399093 CLCN4 Health Risk Likely pathogenic Intellectual disability, X-linked 49
RS192441133 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Hereditary spastic paraplegia
RS192442930 GSS Health Risk Conflicting classifications of pathogenicity Inherited glutathione synthetase deficiency, Inherited glutathione synthetase deficiency
RS1924435164 LZTR1 Health Risk Likely pathogenic —
RS192443850 GARS1 Health Risk Conflicting classifications of pathogenicity Distal spinal muscular atrophy, Charcot-Marie-Tooth disease type 2
RS1924439391 LZTR1 Health Risk Pathogenic/Likely pathogenic Schwannomatosis, Schwannomatosis
RS1924441805 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1924450715 CLCN4 Health Risk Likely pathogenic Intellectual disability, X-linked 49
RS1924457413 LZTR1 Health Risk Conflicting classifications of pathogenicity —
RS1924461126 LZTR1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1924462309 LZTR1 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1924464151 LZTR1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS192448853 CNGB3 Health Risk Conflicting classifications of pathogenicity Achromatopsia 3, Achromatopsia 3
RS1924497235 LZTR1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1924497432 LZTR1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1924521211 RP2 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1924521431 RP2 Health Risk Pathogenic Retinitis pigmentosa, Retinal dystrophy
RS1924523150 LZTR1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1924523272 RP2 Health Risk Pathogenic Retinitis pigmentosa 2, Retinitis pigmentosa 2
RS1924525661 LZTR1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1924526245 LZTR1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS192453952 XDH Health Risk Conflicting classifications of pathogenicity Hereditary xanthinuria type 1, Xanthinuria type II
RS192454382 SLC24A5 Health Risk Conflicting classifications of pathogenicity —
RS1924566447 LZTR1 Health Risk Pathogenic Schwannomatosis, Schwannomatosis
RS1924568324 LZTR1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS192457706 SLC26A2 Health Risk Conflicting classifications of pathogenicity Atelosteogenesis type II, Sulfate transporter-related osteochondrodysplasia
RS1924581492 SMS Health Risk Likely pathogenic Thyroid cancer, nonmedullary
RS192458322 ALDH3A2 Health Risk Conflicting classifications of pathogenicity Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS1924586809 SMS Health Risk Likely pathogenic Syndromic X-linked intellectual disability Snyder type, Nonpapillary renal cell carcinoma
RS1924595442 CHM Health Risk Pathogenic —
RS1924597556 CHM Health Risk Pathogenic —
RS1924610101 LZTR1 Health Risk Pathogenic Schwannomatosis, Schwannomatosis
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