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
RS1060503063 DNAH11 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS1060503064 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS1060503067 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1060503072 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS1060503074 RB1 Health Risk Pathogenic Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1060503075 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1060503077 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1060503078 RB1 Health Risk Pathogenic Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1060503079 RB1 Health Risk Pathogenic Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1060503085 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1060503086 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1060503087 RB1 Health Risk Pathogenic Retinoblastoma, Sarcoma
RS1060503088 RB1 Health Risk Pathogenic/Likely pathogenic Retinoblastoma, Retinoblastoma
RS1060503090 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1060503092 NDRG1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4D
RS1060503095 DNAAF4 Health Risk Pathogenic —
RS1060503101 SCN2A Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 11
RS1060503102 SCN2A Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 11
RS1060503104 SPAG1 Health Risk Likely pathogenic Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28
RS1060503107 SPAG1 Health Risk Pathogenic Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28
RS1060503108 CACNA2D2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1060503110 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 4
RS1060503111 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1060503113 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1060503126 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Mismatch repair cancer syndrome 4
RS1060503128 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1060503130 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1060503131 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1060503132 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1060503133 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1060503135 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 4
RS1060503137 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1060503138 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 4
RS1060503142 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1060503148 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1060503154 TBX5 Health Risk Pathogenic Aortic valve disease 2, Aortic valve disease 2
RS1060503164 CFTR Health Risk Pathogenic/Likely pathogenic Cystic fibrosis, CFTR-related disorder
RS1060503165 DES Health Risk Pathogenic Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS1060503180 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1060503181 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1060503182 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1060503183 CHD7 Health Risk Pathogenic/Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS1060503184 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1060503185 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1060503187 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1060503188 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS1060503189 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS1060503191 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1060503192 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1060503194 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1060503196 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1060503200 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1060503203 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1060503209 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1060503210 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1060503212 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Tuberous sclerosis syndrome
RS1060503213 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1060503214 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1060503216 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1060503217 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1060503218 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1060503220 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Lymphangiomyomatosis
RS1060503223 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1060503224 TSC1 Health Risk Likely pathogenic Tuberous sclerosis 1, Isolated focal cortical dysplasia type II
RS1060503226 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1060503227 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1060503228 GRIN2A Health Risk Pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1060503234 ACVRL1 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS1060503235 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1060503236 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1060503237 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1060503238 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1060503239 ACVRL1 Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS1060503240 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1060503241 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1060503242 ACVRL1 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS1060503243 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1060503245 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1060503246 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1060503247 ACVRL1 Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS1060503248 ACVRL1 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS1060503249 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1060503257 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1060503259 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS1060503260 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis
RS1060503261 APC Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1060503263 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1060503281 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS1060503282 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1060503287 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1060503288 APC Health Risk Pathogenic Familial multiple polyposis syndrome, Familial adenomatous polyposis 1
RS1060503299 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1060503305 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1060503307 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1060503310 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS1060503318 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1060503321 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1060503323 APC Health Risk Pathogenic Carcinoma of colon, Hereditary cancer-predisposing syndrome
RS1060503325 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1060503326 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, APC-related disorder
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