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
RS777383151 GBA1 Health Risk Pathogenic Gaucher disease, Gaucher disease
RS777384403 PEX1 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 1A (Zellweger), Zellweger spectrum disorders
RS777384922 TXNRD2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Primary dilated cardiomyopathy
RS777385334 NR0B1 Health Risk Conflicting classifications of pathogenicity Congenital adrenal hypoplasia, X-linked
RS777385405 KMT2E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS777385847 PPP2CA Health Risk Pathogenic —
RS77738682 GBA1 Health Risk Likely pathogenic —
RS777386945 KCNQ5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 46
RS777387819 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
RS777389303 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Ovarian serous cystadenocarcinoma
RS777389675 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS777390504 POLE Health Risk Conflicting classifications of pathogenicity Familial colorectal cancer, Hereditary cancer-predisposing syndrome
RS777390929 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS777394722 TWNK Health Risk Conflicting classifications of pathogenicity —
RS77739540 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, Orofaciodigital syndrome type 6
RS777396418 ATP2B2 Health Risk Conflicting classifications of pathogenicity ATP2B2-related disorder, ATP2B2-related disorder
RS777397727 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS777398393 TSC2 Health Risk Conflicting classifications of pathogenicity Isolated focal cortical dysplasia type II, Hereditary cancer-predisposing syndrome
RS777399400 IFT140 Health Risk Pathogenic/Likely pathogenic Saldino-Mainzer syndrome, IFT140-related disorder
RS777400873 RAD51D Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS777400961 ATP1A2 Health Risk Pathogenic/Likely pathogenic Familial hemiplegic migraine, Migraine
RS777401300 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Autosomal dominant Alport syndrome
RS777401627 RERE Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS777401747 IRF7 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 39, Immunodeficiency 39
RS777401981 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS777402247 CTCF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CTCF-related disorder
RS77740352 UNC45B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS777405662 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS777405686 MOCS1 Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS777406369 TECPR2 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 49, Hereditary spastic paraplegia
RS777407076 BLTP1 Health Risk Likely pathogenic Arthrogryposis multiplex congenita, Fetal akinesia deformation sequence 1
RS777407223 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS777407386 DSP Health Risk Conflicting classifications of pathogenicity Primary familial dilated cardiomyopathy, Cardiomyopathy
RS777408599 GSDME Health Risk Conflicting classifications of pathogenicity —
RS777409019 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS777409908 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS777411017 KIF5C Health Risk Conflicting classifications of pathogenicity Complex cortical dysplasia with other brain malformations 2, Craniosynostosis syndrome
RS777411661 ABCG5 Health Risk Conflicting classifications of pathogenicity Sitosterolemia 1, Cardiovascular phenotype
RS777412559 CEP83 Health Risk Pathogenic Nephronophthisis 18, Nephronophthisis 18
RS77741297 CERKL Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 26
RS777413129 KMT2E Health Risk Pathogenic/Likely pathogenic Global developmental delay, O'Donnell-Luria-Rodan syndrome
RS777413662 KAT6A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS777413769 LRBA Health Risk Pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS777414421 PANK2 Health Risk Pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS777414552 MLYCD Health Risk Pathogenic Deficiency of malonyl-CoA decarboxylase, Familial cancer of breast
RS777414554 GNAO1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 17
RS777415466 ABCA4 Health Risk Conflicting classifications of pathogenicity Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS777415626 MANBA Health Risk Pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS777416084 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Hereditary sensory neuropathy-deafness-dementia syndrome
RS777416478 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS777417815 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS777417920 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS777417935 RAB3GAP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS777418116 EXOSC5 Health Risk Pathogenic/Likely pathogenic Cerebellar ataxia, brain abnormalities
RS777418402 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Left ventricular noncompaction 10
RS777418673 NEXN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 20
RS777419017 ARHGAP31 Health Risk Conflicting classifications of pathogenicity ARHGAP31-related disorder, Inborn genetic diseases
RS777420059 MAOA Health Risk Conflicting classifications of pathogenicity Intellectual disability, Inborn genetic diseases
RS777420094 AHI1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Joubert syndrome 3
RS777420424 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS777420525 BBS2 Health Risk Likely pathogenic Retinitis pigmentosa, Bardet-Biedl syndrome 2
RS777420895 ACO2 Health Risk Likely pathogenic —
RS777420907 SDHA Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS777421313 TH Health Risk Conflicting classifications of pathogenicity Autosomal recessive DOPA responsive dystonia, TH-related disorder
RS777421358 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS777422547 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS777423061 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS777424455 SZT2 Health Risk Pathogenic/Likely pathogenic —
RS777425216 DPYD Health Risk Conflicting classifications of pathogenicity Dihydropyrimidine dehydrogenase deficiency, DPYD-related disorder
RS777425801 DHCR7 Health Risk Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS777425925 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS777426142 SATL1 Health Risk Conflicting classifications of pathogenicity —
RS777428839 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS777429168 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, MSH2-related disorder
RS777430457 BSCL2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS777430704 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS777431148 ARSA Health Risk Pathogenic/Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS777431652 KBTBD13 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 6, Nemaline myopathy 6
RS777432357 PRDM5 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS777433159 MAGEL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS777433697 UROS Health Risk Pathogenic —
RS777433819 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Inborn genetic diseases
RS777435511 ABCG8 Health Risk Conflicting classifications of pathogenicity Sitosterolemia 1, Sitosterolemia 1
RS777435555 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS777436361 SPINK5 Health Risk Pathogenic Netherton syndrome, Ichthyosis linearis circumflexa
RS777436497 UNG Health Risk Conflicting classifications of pathogenicity Hyper-IgM syndrome type 5, Hyper-IgM syndrome type 5
RS777436696 CTRC Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS777436865 PLCE1 Health Risk Conflicting classifications of pathogenicity PLCE1-related disorder, PLCE1-related disorder
RS777437107 KAT6A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS777437569 ASL Health Risk Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS777437871 POMT1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
RS777438509 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS777438557 FRAS1 Health Risk Pathogenic/Likely pathogenic Fraser syndrome 1, Fraser syndrome 1
RS777438560 ABCC2 Health Risk Pathogenic/Likely pathogenic ABCC2-related disorder, Dubin-Johnson syndrome
RS777442803 GOSR2 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy, Progressive myoclonic epilepsy
RS777443178 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS777445126 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS77744524 POLQ Health Risk Conflicting classifications of pathogenicity POLQ-related disorder, POLQ-related disorder
RS777446550 LIPA Health Risk Likely pathogenic Lysosomal acid lipase deficiency, Lysosomal acid lipase deficiency
RS777446581 MKKS Health Risk Likely pathogenic Bardet-Biedl syndrome, McKusick-Kaufman syndrome
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