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
RS77138370 FKRP Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS771384229 SLC26A4 Health Risk Pathogenic —
RS771385385 KLKB1 Health Risk Likely pathogenic Inherited prekallikrein deficiency, Inherited prekallikrein deficiency
RS771385579 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS771385738 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS771385792 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Inborn genetic diseases
RS771386274 SLC2A1 Health Risk Likely pathogenic Colon adenocarcinoma, Colon adenocarcinoma
RS771386501 ZNF687 Health Risk Conflicting classifications of pathogenicity —
RS771387164 CHEK2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS771387494 ZFP57 Health Risk Conflicting classifications of pathogenicity Diabetes mellitus, transient neonatal
RS771388402 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS771390000 POMT1 Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2K
RS771390521 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS771390525 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Autosomal recessive Alport syndrome
RS771391168 WFS1 Health Risk Uncertain significance/Uncertain risk allele Wolfram syndrome 1, Cataract 41
RS771392563 CDK4 Health Risk Conflicting classifications of pathogenicity Familial melanoma, Melanoma
RS771392678 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dilated cardiomyopathy 3B
RS771393519 ETFDH Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS771393692 ZFYVE26 Health Risk Likely pathogenic Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15
RS771395982 ARG1 Health Risk Likely pathogenic Arginase deficiency, Arginase deficiency
RS771396497 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, Fibromatosis
RS771397083 CHST6 Health Risk Pathogenic Macular corneal dystrophy, Macular corneal dystrophy
RS771397877 MYO15A Health Risk Conflicting classifications of pathogenicity —
RS771399151 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS771399346 PHF6 Health Risk Pathogenic Borjeson-Forssman-Lehmann syndrome, Borjeson-Forssman-Lehmann syndrome
RS771399440 POMGNT2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS771399441 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS771400478 TBX5 Health Risk Conflicting classifications of pathogenicity Holt-Oram syndrome, Aortic valve disease 2
RS771400496 GLI1 Health Risk Pathogenic —
RS771400826 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Inborn genetic diseases
RS771401637 MTMR14 Health Risk Conflicting classifications of pathogenicity Chronic lymphocytic leukemia/small lymphocytic lymphoma, Chronic lymphocytic leukemia/small lymphocytic lymphoma
RS771402018 FA2H Health Risk Likely pathogenic Spastic paraplegia, Hereditary spastic paraplegia 35
RS771402331 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy
RS771402351 SPTBN2 Health Risk Conflicting classifications of pathogenicity —
RS771402747 MTPAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771403927 ASS1 Health Risk Conflicting classifications of pathogenicity Citrullinemia type I, Citrullinemia
RS771405314 TTC21B Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 4, Nephronophthisis 12
RS771405370 GBE1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type IV
RS771406546 CPT2 Health Risk Pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency
RS771407307 DEPDC5 Health Risk Conflicting classifications of pathogenicity Familial focal epilepsy with variable foci, Inborn genetic diseases
RS771407322 FOXN1 Health Risk Likely pathogenic T-cell immunodeficiency, congenital alopecia
RS77140743 TH Health Risk Likely pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS771407775 PTPN11 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 1, Juvenile myelomonocytic leukemia
RS771407924 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS771408533 TET2 Health Risk Pathogenic EBV-positive nodal T- and NK-cell lymphoma, EBV-positive nodal T- and NK-cell lymphoma
RS771409328 DNAJC21 Health Risk Likely pathogenic —
RS771409330 GJB2 Health Risk Pathogenic —
RS771409497 RAX Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 3, RAX-related disorder
RS771409809 WFS1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS771410002 CYP27B1 Health Risk Pathogenic —
RS771410054 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Inborn genetic diseases
RS771410311 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS771413223 KBTBD13 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 6, Inborn genetic diseases
RS771413361 CARD14 Health Risk Conflicting classifications of pathogenicity Pityriasis rubra pilaris, Psoriasis 2
RS771414313 RTN4IP1 Health Risk Pathogenic —
RS771414318 NCSTN Health Risk Pathogenic Acne inversa, familial
RS771414481 DYM Health Risk Pathogenic/Likely pathogenic —
RS771414620 AGRN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 8, Inborn genetic diseases
RS771414681 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS771415140 ADGRE2 Health Risk Conflicting classifications of pathogenicity —
RS771417982 CHRNG Health Risk Conflicting classifications of pathogenicity Lethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndrome
RS771419309 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 11, Long QT syndrome
RS771419468 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS771419718 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS771419825 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis, Hereditary spherocytosis type 1
RS771420212 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS771420258 IDUA Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS771420771 COL4A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771420935 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Menke-Hennekam syndrome 1
RS771420960 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS771421444 TMEM67 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS771422197 CHIT1 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS771423362 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS771423488 CD46 Health Risk Likely pathogenic Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
RS771425372 PCYT1A Health Risk Conflicting classifications of pathogenicity Lipodystrophy, congenital generalized
RS771425504 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS771425634 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS771425756 PRPF6 Health Risk Conflicting classifications of pathogenicity —
RS771425987 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS771426932 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS771427543 RP1L1 Health Risk Conflicting classifications of pathogenicity RP1L1-related disorder, Retinitis pigmentosa 88
RS771427957 PYGM Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Glycogen storage disease
RS771429165 FGA Health Risk Conflicting classifications of pathogenicity Familial visceral amyloidosis, Ostertag type
RS771429717 OCRL Health Risk Conflicting classifications of pathogenicity Lowe syndrome, Nephrolithiasis/nephrocalcinosis
RS771431346 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS771433734 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS771435248 EVC2 Health Risk Conflicting classifications of pathogenicity Curry-Hall syndrome, Ellis-van Creveld syndrome
RS771435989 ANXA11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771437236 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS771437431 ABCB4 Health Risk Conflicting classifications of pathogenicity ABCB4-related disorder, ABCB4-related disorder
RS771437656 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS771437898 PRKN Health Risk Conflicting classifications of pathogenicity Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2
RS771437944 BPTF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771438170 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS771439149 SLC6A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Epilepsy with myoclonic atonic seizures
RS771439854 MSH3 Health Risk Pathogenic Familial adenomatous polyposis 4, Familial adenomatous polyposis 4
RS771441002 MCM3AP Health Risk Conflicting classifications of pathogenicity —
RS771441619 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS771441863 SERPINA6 Health Risk Likely pathogenic Corticosteroid-binding globulin deficiency, Corticosteroid-binding globulin deficiency
RS771442178 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
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