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
RS779350241 FANCD2 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group D2, Fanconi anemia
RS779350691 FILIP1 Health Risk Pathogenic Neuromuscular disorder, congenital
RS779350720 COL4A1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies
RS779353394 CACNA1G Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779353952 SERPINI1 Health Risk Conflicting classifications of pathogenicity Familial encephalopathy with neuroserpin inclusion bodies, Inborn genetic diseases
RS779354091 GLIS3 Health Risk Conflicting classifications of pathogenicity Neonatal diabetes mellitus with congenital hypothyroidism, GLIS3-related disorder
RS779356370 ATP1A2 Health Risk Conflicting classifications of pathogenicity Alternating hemiplegia of childhood 1, Migraine
RS779356849 MECR Health Risk Pathogenic —
RS779357435 SCLT1 Health Risk Likely pathogenic Ovarian serous cystadenocarcinoma, Ovarian serous cystadenocarcinoma
RS779357448 ADAR Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Aicardi-Goutieres syndrome 6
RS779358121 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Inborn genetic diseases
RS779358191 MED13 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual developmental disorder 61
RS779358370 TRAPPC12 Health Risk Likely pathogenic TRAPPC12-related disorder, TRAPPC12-related disorder
RS779359608 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS779360113 DSG2 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS779361129 KIF11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779362072 EIF2AK2 Health Risk Conflicting classifications of pathogenicity —
RS779362501 CUL7 Health Risk Conflicting classifications of pathogenicity —
RS779363624 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Myopathy
RS779364622 SAG Health Risk Likely pathogenic —
RS779365266 TNFRSF13C Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS779365332 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Holoprosencephaly 7
RS779366181 C3 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with C3 anomaly, Age related macular degeneration 9
RS779366544 BCHE Health Risk Likely pathogenic Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase
RS779366889 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS779367457 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS779369226 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS779370354 BCKDHB Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS779370636 KRAS Health Risk Conflicting classifications of pathogenicity Noonan syndrome 3, RASopathy
RS779371501 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS779372264 EYS Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Autosomal recessive retinitis pigmentosa
RS77937237 COL9A2 Health Risk Conflicting classifications of pathogenicity Epiphyseal dysplasia, multiple
RS779374474 CYLD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779374859 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS779375100 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS779375399 OPA1 Health Risk Conflicting classifications of pathogenicity —
RS779375711 ARID1B Health Risk Pathogenic —
RS779375840 MEGF8 Health Risk Pathogenic/Likely pathogenic MEGF8-related Carpenter syndrome, MEGF8-related Carpenter syndrome
RS779378413 ARSB Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS779379127 C1QBP Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation deficiency 33, Combined oxidative phosphorylation deficiency 33
RS779379200 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS779379680 KCNB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 26
RS779379912 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
RS779380542 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS779380562 LARP7 Health Risk Pathogenic —
RS779381935 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS779382711 OCA2 Health Risk Pathogenic/Likely pathogenic Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
RS779383230 OPA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779383252 SIGLEC14 Health Risk Conflicting classifications of pathogenicity —
RS779383393 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 1, Long QT syndrome
RS779383442 ACD Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 6
RS779383710 COPA Health Risk Conflicting classifications of pathogenicity Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases
RS779384030 PSAP Health Risk Likely pathogenic Sphingolipid activator protein 1 deficiency, Hepatocellular carcinoma
RS779384045 COL9A1 Health Risk Pathogenic —
RS779384199 ARL6 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 55, Bardet-Biedl syndrome 3
RS779384470 PCSK9 Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Cardiovascular phenotype
RS779384498 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Inborn genetic diseases
RS779385095 SLC22A5 Health Risk Pathogenic/Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS779385536 COL11A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779385700 CARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 27, Combined oxidative phosphorylation defect type 27
RS779385985 ACAD8 Health Risk Pathogenic Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase
RS779386334 NEXN Health Risk Pathogenic Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20
RS779386878 SOX9 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Camptomelic dysplasia
RS77938727 PGAM2 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type X, Glycogen storage disease type X
RS779387647 SEPSECS Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 2D, Pontocerebellar hypoplasia type 2D
RS779388970 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS779389497 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS779390261 C1QTNF5;MFRP Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 5, Late-onset retinal degeneration
RS779390573 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS779390608 NLRC4 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Inborn genetic diseases
RS779390859 SLC12A6 Health Risk Conflicting classifications of pathogenicity Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS779391826 PROS1 Health Risk Pathogenic/Likely pathogenic Thrombophilia due to protein S deficiency, autosomal recessive
RS779392056 PYGM Health Risk Likely pathogenic Abnormality of metabolism/homeostasis, Abnormality of metabolism/homeostasis
RS779392207 ROBO4 Health Risk Likely pathogenic Bicuspid aortic valve, Ascending tubular aorta aneurysm
RS779392697 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy
RS779393035 AOPEP Health Risk Likely pathogenic Dystonia 31, Clear cell carcinoma of kidney
RS779393817 NEK8 Health Risk Conflicting classifications of pathogenicity Renal-hepatic-pancreatic dysplasia 2, Nephronophthisis 9
RS779394254 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS779394350 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Lung cancer
RS77939446 RET Health Risk Pathogenic MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA
RS779395169 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS779395187 ZFYVE19 Health Risk Likely pathogenic ZFYVE19-related disorder, ZFYVE19-related disorder
RS779397293 CDH15 Health Risk Conflicting classifications of pathogenicity —
RS779397562 CD247 Health Risk Pathogenic Immunodeficiency 25, Immunodeficiency 25
RS779397937 PLEKHM2 Health Risk Conflicting classifications of pathogenicity —
RS77939839 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS779399414 PRF1 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Familial hemophagocytic lymphohistiocytosis 2
RS779400054 PCDH15 Health Risk Conflicting classifications of pathogenicity —
RS779400418 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS779401555 DHCR7 Health Risk Pathogenic Smith-Lemli-Opitz syndrome, Inborn genetic diseases
RS779401654 TECTA Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 12, Autosomal dominant nonsyndromic hearing loss 12
RS779401895 AP3B2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS779402752 HCN4 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 8, Cardiovascular phenotype
RS779405050 WDR81 Health Risk Likely pathogenic WDR81-related disorder, WDR81-related disorder
RS779405152 BBS5 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 5
RS779406194 BICD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
RS779406287 CEP164 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 15, Nephronophthisis 15
RS779406677 NR5A1 Health Risk Pathogenic 46, XY sex reversal 3
RS779407441 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS779407729 EVC2 Health Risk Pathogenic/Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
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