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
RS936665671 SPTA1 Health Risk Likely pathogenic SPTA1-related disorder, SPTA1-related disorder
RS936673131 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS936681187 GDAP1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A
RS936778119 KCNB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 26
RS936818837 NEK1 Health Risk Likely pathogenic NEK1-related disorder, NEK1-related disorder
RS936824026 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS936826425 GATA2 Health Risk Likely pathogenic Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS9368354 TFAP2A Health Risk Conflicting classifications of pathogenicity Branchiooculofacial syndrome, Branchiooculofacial syndrome
RS936842682 ACAD9 Health Risk Pathogenic —
RS936866997 FKRP Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS936892236 MTX2 Health Risk Likely pathogenic Mandibuloacral dysplasia progeroid syndrome, Mandibuloacral dysplasia progeroid syndrome
RS936922976 SLC13A5 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 25
RS936980006 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS936983140 HNRNPU Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 54
RS936998542 LRP5 Health Risk Pathogenic/Likely pathogenic 6 conditions, 6 conditions
RS937001182 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS937013345 ASCC1 Health Risk Pathogenic —
RS937023804 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS937051879 FLNB Health Risk Conflicting classifications of pathogenicity —
RS937056702 GANAB Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 3 with or without polycystic liver disease, Inborn genetic diseases
RS937095421 HNRNPU Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS937111656 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS937125016 CPLANE1 Health Risk Pathogenic —
RS937138982 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
RS937164753 TSEN54 Health Risk Likely pathogenic —
RS937215195 COQ2 Health Risk Likely pathogenic —
RS937218360 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS937290981 ODAD3 Health Risk Likely pathogenic Primary ciliary dyskinesia 30, Primary ciliary dyskinesia 30
RS937318545 MAN1B1 Health Risk Pathogenic Rafiq syndrome, Rafiq syndrome
RS937345512 L2HGDH Health Risk Pathogenic L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria
RS937387158 COL4A3 Health Risk Pathogenic —
RS937407062 HLCS Health Risk Pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS937446537 POLR3B Health Risk Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
RS937490699 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS937495958 RPS6KA3 Health Risk Conflicting classifications of pathogenicity Coffin-Lowry syndrome, Intellectual disability
RS937502048 BMPR2 Health Risk Pathogenic Pulmonary hypertension, primary
RS937519016 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS937550597 COL4A4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome, Hematuria
RS937557181 OTOG Health Risk Conflicting classifications of pathogenicity —
RS937585109 RMRP Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS937606032 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa 39
RS937670540 ASPA Health Risk Pathogenic/Likely pathogenic Spongy degeneration of central nervous system, Inborn genetic diseases
RS937672207 AIP Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS937683680 GBE1 Health Risk Likely pathogenic Glycogen storage disease, type IV
RS937726878 PMM2 Health Risk Pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS937766053 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS937809555 ZMYM3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS9378251 CYP21A2 Health Risk Pathogenic ADRENAL HYPERPLASIA, CONGENITAL
RS9378252 CYP21A2 Health Risk Conflicting classifications of pathogenicity ADRENAL HYPERPLASIA, CONGENITAL
RS937871148 NOTCH3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS937874201 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS937879671 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
RS937887233 COG4 Health Risk Pathogenic COG4-congenital disorder of glycosylation, COG4-congenital disorder of glycosylation
RS937920116 ATP9A Health Risk Pathogenic Neurodevelopmental disorder with poor growth and behavioral abnormalities, Neurodevelopmental disorder with poor growth and behavioral abnormalities
RS937973897 AGA Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS937998415 QARS1 Health Risk Pathogenic Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
RS938050921 DCDC2;KAAG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis
RS9380525 FKBP5 Health Risk Likely risk allele Susceptibility to severe depressive disorder, Susceptibility to severe depressive disorder
RS938124834 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS938190132 BRCA2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS938243662 KMT2E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS938254089 ARHGEF6 Health Risk Conflicting classifications of pathogenicity —
RS938263270 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS938278864 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS938347047 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS938431501 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS938448224 STAT5B Health Risk Conflicting classifications of pathogenicity Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
RS938466163 PHYH Health Risk Pathogenic —
RS938498462 JPH2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS938522045 CUL7 Health Risk Likely pathogenic 3M syndrome 1, 3M syndrome 1
RS938557636 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS938576591 MAN2B1 Health Risk Pathogenic/Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS938580887 ASXL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS938583000 PNPLA1 Health Risk Likely pathogenic Lamellar ichthyosis, Lamellar ichthyosis
RS938611392 HEXB Health Risk Conflicting classifications of pathogenicity Sandhoff disease, Sandhoff disease
RS938617354 MLYCD Health Risk Pathogenic Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase
RS938623851 NEXMIF Health Risk Conflicting classifications of pathogenicity —
RS938635028 RAF1 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS938655561 KMT2C Health Risk Pathogenic Medulloblastoma WNT activated, Medulloblastoma WNT activated
RS938714371 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS938753170 GYG1 Health Risk Pathogenic Glycogen storage disease XV, Polyglucosan body myopathy type 2
RS938796645 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS938857026 GJB2 Health Risk Pathogenic —
RS938886650 ASCC3 Health Risk Conflicting classifications of pathogenicity Congenital myopathy, Congenital myopathy
RS938887836 RARS2 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS938938578 TERT Health Risk Pathogenic/Likely pathogenic Pulmonary fibrosis, Idiopathic Pulmonary Fibrosis
RS938952718 FLNA Health Risk Conflicting classifications of pathogenicity Melnick-Needles syndrome, Heterotopia
RS938987727 GDF1 Health Risk Pathogenic —
RS938997251 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS939021094 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS939028046 SLC7A9 Health Risk Conflicting classifications of pathogenicity Cystinuria, Cystinuria
RS939099741 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS939223011 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Nonpapillary renal cell carcinoma
RS939275328 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS939373681 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS939374091 CAPN3 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS939425427 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS939457499 MCIDAS Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS939459600 NFKB1 Health Risk Pathogenic/Likely pathogenic Immunodeficiency, common variable
RS939534674 FREM2 Health Risk Pathogenic Isolated cryptophthalmia, Fraser syndrome 2
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