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
RS77553387 SLC26A4 Health Risk Conflicting classifications of pathogenicity Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS775534948 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS775535794 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS775536114 ANO10 Health Risk Pathogenic —
RS775536678 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS775537066 BRIP1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS775537394 KCNQ1 Health Risk Pathogenic Long QT syndrome, Cardiovascular phenotype
RS775537775 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Malignant tumor of urinary bladder
RS775538075 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS775538505 CDH23 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS775538827 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS775539045 ETV6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS775539408 SRCAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS775539496 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS77554031 SCARB1 Health Risk Conflicting classifications of pathogenicity HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6, HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6
RS775540481 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS775540526 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Hearing loss
RS775541743 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS775542605 EXT2 Health Risk Conflicting classifications of pathogenicity Exostoses, multiple
RS775542878 FYCO1 Health Risk Pathogenic Cataract 18, Cataract 18
RS775543440 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS775544184 COL4A3 Health Risk Likely pathogenic —
RS775544277 DOK7 Health Risk Pathogenic Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
RS775544616 DOCK8 Health Risk Pathogenic Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS775546937 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy
RS775546982 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS775547036 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS775548230 FRAS1 Health Risk Pathogenic Fraser syndrome 1, Fraser syndrome 1
RS775548362 ETFDH Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS775548781 POMT2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2N, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS775549101 ERCC6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS77554925 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS775549541 ZIC3 Health Risk Conflicting classifications of pathogenicity Heterotaxy, visceral
RS775550081 MPL Health Risk Likely pathogenic Essential thrombocythemia, Congenital amegakaryocytic thrombocytopenia
RS775550926 PTPN23 Health Risk Pathogenic —
RS775551492 TONSL Health Risk Conflicting classifications of pathogenicity Sponastrime dysplasia, Sponastrime dysplasia
RS775552018 TTN Health Risk Conflicting classifications of pathogenicity —
RS775553284 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS775553302 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, ATP7B-related disorder
RS775553455 COL10A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS775554736 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS775555999 EVC Health Risk Pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
RS775556040 CACNB2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome 4
RS775556188 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS775557680 RHO Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 4, Retinitis pigmentosa
RS775558051 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS775558761 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS775559795 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS775560235 MYH6 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 14, Cardiomyopathy
RS775561306 PDE6B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS775561876 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS775562315 KANK4 Health Risk Conflicting classifications of pathogenicity —
RS775562650 COL3A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS775563545 COL4A1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Congenital anomaly of kidney and urinary tract
RS775563618 AIP Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Somatotroph adenoma
RS775564742 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS775564750 WNK1 Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C, Neuropathy
RS775565256 XRCC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Spermatogenic failure 50
RS775565405 PNLIP Health Risk Likely pathogenic —
RS775565475 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS775566357 PLOD3 Health Risk Likely pathogenic —
RS775566992 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS775567440 LRBA Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS775567968 NACC1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with epilepsy, cataracts
RS775568216 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS775568682 THBD Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
RS775568949 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS775569136 ACSF3 Health Risk Pathogenic/Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS775569624 SGSH Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
RS775569629 CCDC78 Health Risk Conflicting classifications of pathogenicity Congenital myopathy with internal nuclei and atypical cores, Inborn genetic diseases
RS775570091 ASH1L Health Risk Pathogenic Intellectual disability, autosomal dominant 52
RS775570109 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS775570414 HPS1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome
RS775570874 TBCK Health Risk Conflicting classifications of pathogenicity Hypotonia, infantile
RS775572639 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS775572689 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
RS775574131 MANBA Health Risk Pathogenic/Likely pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS775575609 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS775575693 NYX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS775576189 POLG Health Risk Pathogenic/Likely pathogenic Progressive sclerosing poliodystrophy, 6 conditions
RS775576810 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Lung cancer
RS775577824 CLN3 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3
RS775578165 PEX5 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
RS775578531 TYK2 Health Risk Likely pathogenic Immunodeficiency 35, Immunodeficiency 35
RS775578986 GNB4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate F, Inborn genetic diseases
RS775579405 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS775579797 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS77558292 RET Health Risk Pathogenic Familial medullary thyroid carcinoma, Aganglionic megacolon
RS775583136 DOK7 Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
RS775583354 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS775583360 PCCB Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Propionic acidemia
RS77558339 SNORD118 Health Risk Conflicting classifications of pathogenicity —
RS775584262 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS775585062 GM2A Health Risk Likely pathogenic Tay-Sachs disease, variant AB
RS775585263 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS775585293 TTLL5 Health Risk Pathogenic —
RS775587076 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, COL11A1-related disorder
RS775587493 FLVCR1 Health Risk Conflicting classifications of pathogenicity Posterior column ataxia-retinitis pigmentosa syndrome, Posterior column ataxia-retinitis pigmentosa syndrome
RS775587809 MUSK Health Risk Likely pathogenic Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1
RS775588479 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
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