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
RS2147914963 FH Health Risk Pathogenic —
RS2147914987 FH Health Risk Likely pathogenic —
RS2147915059 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer
RS2147916020 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colon adenocarcinoma
RS2147916135 FH Health Risk Pathogenic —
RS2147916185 FH Health Risk Conflicting classifications of pathogenicity Hereditary leiomyomatosis and renal cell cancer, Hereditary leiomyomatosis and renal cell cancer
RS2147916256 FH Health Risk Likely pathogenic —
RS2147916281 FH Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2147916319 FH Health Risk Pathogenic/Likely pathogenic Hereditary leiomyomatosis and renal cell cancer, Hereditary leiomyomatosis and renal cell cancer
RS2147916324 FH Health Risk Pathogenic —
RS2147916327 FH Health Risk Pathogenic —
RS2147916371 FH Health Risk Likely pathogenic —
RS2147916393 FH Health Risk Pathogenic —
RS2147916407 FH Health Risk Pathogenic —
RS2147916471 CACNA1F Health Risk Likely pathogenic —
RS2147916480 CACNA1F Health Risk Pathogenic X-linked cone-rod dystrophy 3, X-linked cone-rod dystrophy 3
RS2147916504 CACNA1F Health Risk Pathogenic X-linked cone-rod dystrophy 3, X-linked cone-rod dystrophy 3
RS2147916854 CACNA1F Health Risk Pathogenic —
RS2147917520 FH Health Risk Pathogenic —
RS2147917609 FH Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2147917619 FH Health Risk Pathogenic Hereditary leiomyomatosis and renal cell cancer, Hereditary leiomyomatosis and renal cell cancer
RS2147917894 CACNA1F Health Risk Likely pathogenic Nonpapillary renal cell carcinoma, Nonpapillary renal cell carcinoma
RS2147919032 CACNA1F Health Risk Pathogenic —
RS2147919372 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2147919380 FH Health Risk Pathogenic —
RS2147919385 FH Health Risk Pathogenic —
RS2147919403 FH Health Risk Pathogenic —
RS2147919465 FH Health Risk Likely pathogenic —
RS2147919525 FH Health Risk Pathogenic —
RS2147919590 FH Health Risk Pathogenic —
RS2147919608 FH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2147919703 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2147919711 FH Health Risk Pathogenic/Likely pathogenic Hereditary leiomyomatosis and renal cell cancer, Hereditary cancer-predisposing syndrome
RS2147921052 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS2147921112 CACNA1F Health Risk Pathogenic/Likely pathogenic —
RS2147921624 AKT3 Health Risk Pathogenic Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
RS2147921662 AKT3 Health Risk Likely pathogenic Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
RS2147921728 FH Health Risk Pathogenic —
RS2147921791 CACNA1F Health Risk Pathogenic —
RS2147921795 FH Health Risk Likely pathogenic —
RS2147921868 FH Health Risk Likely pathogenic —
RS2147921876 FH Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2147921886 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2147921891 FH Health Risk Pathogenic/Likely pathogenic —
RS2147921966 FH Health Risk Pathogenic —
RS2147922022 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2147922731 MTR Health Risk Likely pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS2147922924 FH Health Risk Conflicting classifications of pathogenicity Hereditary leiomyomatosis and renal cell cancer, Hereditary leiomyomatosis and renal cell cancer
RS2147923081 FH Health Risk Pathogenic —
RS2147923117 FH Health Risk Likely pathogenic —
RS2147923128 ORC1 Health Risk Pathogenic Meier-Gorlin syndrome 1, Meier-Gorlin syndrome 1
RS2147923995 TEX11 Health Risk Pathogenic Non-obstructive azoospermia, Non-obstructive azoospermia
RS2147924133 CACNA1F Health Risk Likely pathogenic —
RS2147924614 CACNA1F Health Risk Likely pathogenic —
RS2147925168 FH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2147925227 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2147925559 CACNA1F Health Risk Likely pathogenic —
RS2147926843 FH Health Risk Pathogenic —
RS2147926875 FH Health Risk Pathogenic —
RS2147926893 FH Health Risk Pathogenic —
RS2147926916 FH Health Risk Pathogenic —
RS2147926966 FH Health Risk Pathogenic —
RS2147927054 FH Health Risk Pathogenic —
RS2147927599 SYN1 Health Risk Pathogenic Epilepsy, X-linked 1
RS2147928664 SYN1 Health Risk Pathogenic Epilepsy, X-linked 1
RS2147933505 SYN1 Health Risk Pathogenic Epilepsy, X-linked 1
RS2147933547 SYN1 Health Risk Likely pathogenic —
RS2147933949 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2147934341 PHKA2 Health Risk Pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS2147934458 DMD Health Risk Pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS2147934840 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2147934967 COL4A5 Health Risk Pathogenic —
RS2147935042 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2147935344 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2147935387 DMD Health Risk Pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS2147935442 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2147935467 COL4A5 Health Risk Likely pathogenic —
RS2147935982 DMD Health Risk Pathogenic/Likely pathogenic —
RS2147936347 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2147938135 CCDC22 Health Risk Conflicting classifications of pathogenicity Ritscher-Schinzel syndrome 2, Ritscher-Schinzel syndrome 2
RS2147939390 MTR Health Risk Conflicting classifications of pathogenicity Methylcobalamin deficiency type cblG, Inborn genetic diseases
RS2147940284 PCNT Health Risk Pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS2147941262 ORC1 Health Risk Pathogenic Meier-Gorlin syndrome 1, Meier-Gorlin syndrome 1
RS2147942943 ORC1 Health Risk Pathogenic —
RS2147944039 FOXP3 Health Risk Pathogenic Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
RS2147944106 FOXP3 Health Risk Pathogenic Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
RS2147944159 FOXP3 Health Risk Likely pathogenic Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
RS2147944334 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease X-linked dominant 1
RS2147944391 FOXP3 Health Risk Pathogenic Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
RS2147944830 KIDINS220 Health Risk Likely pathogenic Cerebral palsy, Cerebral palsy
RS2147944895 GJB1 Health Risk Pathogenic/Likely pathogenic Peripheral neuropathy, Peripheral neuropathy
RS2147945283 GJB1 Health Risk Likely pathogenic Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
RS2147945425 KIDINS220 Health Risk Pathogenic Spastic paraplegia, intellectual disability
RS2147945432 GJB1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease X-linked dominant 1
RS2147945443 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
RS2147945457 KIDINS220 Health Risk Likely pathogenic Spastic paraplegia, intellectual disability
RS2147945607 GJB1 Health Risk Pathogenic —
RS2147945660 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
RS2147945690 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
RS2147945805 NBAS Health Risk Pathogenic —
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