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
RS775031246 ATP1A2 Health Risk Conflicting classifications of pathogenicity Alternating hemiplegia of childhood 1, Migraine
RS775032667 LAMP2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS775033195 FLG Health Risk Pathogenic —
RS77503355 RET Health Risk Pathogenic Multiple endocrine neoplasia type 2A, Multiple endocrine neoplasia
RS775034495 SLC26A5 Health Risk Likely pathogenic —
RS775034584 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS775034792 TBCK Health Risk Pathogenic/Likely pathogenic TBCK-related disorder, Hypotonia
RS775035051 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS775036118 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS775036569 CEBPE Health Risk Pathogenic Specific granule deficiency 1, Specific granule deficiency
RS775037345 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS775037541 CRTAP Health Risk Likely pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS775037805 HSPD1 Health Risk Pathogenic Hereditary spastic paraplegia 13, Hereditary spastic paraplegia 13
RS775038374 ADGRA3 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS775038513 CNGB3 Health Risk Pathogenic Achromatopsia 3, Achromatopsia 3
RS775038545 CRYBA1 Health Risk Conflicting classifications of pathogenicity Cataract 10 multiple types, Cataract 10 multiple types
RS775039992 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS775041042 PIGO Health Risk Conflicting classifications of pathogenicity Hyperphosphatasia with intellectual disability syndrome 2, Inborn genetic diseases
RS775042268 MYL4 Health Risk Likely pathogenic Atrial fibrillation, familial
RS775042317 MCOLN1 Health Risk Conflicting classifications of pathogenicity Mucolipidosis type IV, Mucolipidosis type IV
RS775042965 EIF2B4 Health Risk Pathogenic —
RS775043799 MKS1 Health Risk Likely pathogenic Meckel syndrome, type 1
RS775043994 RFWD3 Health Risk Conflicting classifications of pathogenicity —
RS775044010 NSD1 Health Risk Conflicting classifications of pathogenicity —
RS775044452 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS775044481 TG Health Risk Pathogenic —
RS775045681 ALG13 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 36
RS775046032 TWNK Health Risk Conflicting classifications of pathogenicity Infantile onset spinocerebellar ataxia, Perrault syndrome 5
RS775049569 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, FLNC-related disorder
RS775051211 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS775051461 CCNO Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS775052416 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS775052849 PLCE1 Health Risk Pathogenic —
RS775055397 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Abnormality of metabolism/homeostasis
RS775055418 CYP1B1 Health Risk Conflicting classifications of pathogenicity Irido-corneo-trabecular dysgenesis, Glaucoma 3A
RS775056163 MCM4 Health Risk Conflicting classifications of pathogenicity Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency, Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
RS775056301 KIF20A Health Risk Conflicting classifications of pathogenicity —
RS775056804 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS775057252 SBDS Health Risk Likely pathogenic Aplastic anemia, Aplastic anemia
RS775057827 SMARCAL1 Health Risk Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS775058660 NEB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Nemaline myopathy 2
RS775059063 SACS Health Risk Pathogenic/Likely pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS775059176 CNGB3 Health Risk Conflicting classifications of pathogenicity —
RS775059899 ABCC8 Health Risk Conflicting classifications of pathogenicity —
RS775060022 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS775060172 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS775060894 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS775061205 ASL Health Risk Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS775061512 CARMIL2 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to CARMIL2 deficiency, Severe combined immunodeficiency due to CARMIL2 deficiency
RS775062085 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiomyopathy
RS775062213 OFD1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Orofaciodigital syndrome I
RS775062249 ILDR1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 42, Hearing loss
RS775064534 FMO3 Health Risk Pathogenic/Likely pathogenic Trimethylaminuria, Trimethylaminuria
RS775065016 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS775065697 AARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 8, Combined oxidative phosphorylation defect type 8
RS775065938 ALDH7A1 Health Risk Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS775066593 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS775067652 CA12 Health Risk Pathogenic Isolated hyperchlorhidrosis, Isolated hyperchlorhidrosis
RS775068146 ROBO3 Health Risk Pathogenic Gaze palsy, familial horizontal
RS775069541 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS775070523 LOX Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS775070656 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS775070969 ATAD3A Health Risk Conflicting classifications of pathogenicity —
RS775071483 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS775071824 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS775072147 POLE Health Risk Conflicting classifications of pathogenicity Intrauterine growth retardation, metaphyseal dysplasia
RS775072385 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS775073103 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, ankyrin-B-related
RS775073228 CRX Health Risk Pathogenic/Likely pathogenic Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS775074954 ALPK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS775075094 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa 39
RS775076289 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS775076363 MYRF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS775076627 COL4A4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS775076977 FANCE Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group E, FANCE-related disorder
RS775077510 MYH14 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 4A, Autosomal dominant nonsyndromic hearing loss 4A
RS775078211 HGSNAT Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C
RS775078728 SLC12A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS775079497 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS775079932 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS775080138 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS775080202 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS775080333 B4GALNT1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS775080539 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 25
RS775080703 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS775080726 CEP120 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 31, Short-rib thoracic dysplasia 13 with or without polydactyly
RS775081992 BBS9 Health Risk Pathogenic Bardet-Biedl syndrome, Retinal vascular dystrophy
RS775083333 EPHB4 Health Risk Conflicting classifications of pathogenicity Venous malformation, Cardiovascular phenotype
RS775084946 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, ankyrin-B-related
RS775085213 SLC6A17 Health Risk Pathogenic Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome, Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
RS775085661 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS775085773 DES Health Risk Likely pathogenic Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS775086466 RET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS775086571 PSAP Health Risk Conflicting classifications of pathogenicity Sphingolipid activator protein 1 deficiency, Krabbe disease due to saposin A deficiency
RS775087598 ABCC8 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Transitory neonatal diabetes mellitus
RS775088748 LPIN1 Health Risk Conflicting classifications of pathogenicity —
RS775090151 BBS10 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 10
RS775090787 TTN Health Risk Conflicting classifications of pathogenicity —
RS775091135 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS775091459 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy
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