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
RS2147858567 TEX11 Health Risk Pathogenic Non-obstructive azoospermia, Non-obstructive azoospermia
RS2147859144 PHKA2 Health Risk Pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS2147859764 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2147859836 COL4A5 Health Risk Pathogenic —
RS2147859879 PHKA2 Health Risk Pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS2147860367 COL4A5 Health Risk Pathogenic —
RS2147863799 SMG8 Health Risk Pathogenic Alzahrani-Kuwahara syndrome, Alzahrani-Kuwahara syndrome
RS2147863904 SMG8 Health Risk Pathogenic Alzahrani-Kuwahara syndrome, Alzahrani-Kuwahara syndrome
RS2147864743 DMD Health Risk Pathogenic —
RS2147865360 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2147865476 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2147865567 COL4A5 Health Risk Pathogenic —
RS2147865582 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2147865584 COL4A5 Health Risk Likely pathogenic —
RS2147865597 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2147865716 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2147865795 COL4A5 Health Risk Pathogenic —
RS2147865884 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2147865920 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2147869121 COL4A5 Health Risk Pathogenic —
RS2147869202 COL4A5 Health Risk Pathogenic —
RS2147869275 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2147869403 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2147869490 SLC16A2 Health Risk Pathogenic Allan-Herndon-Dudley syndrome, Nonpapillary renal cell carcinoma
RS2147870528 SLC16A2 Health Risk Likely pathogenic Allan-Herndon-Dudley syndrome, Allan-Herndon-Dudley syndrome
RS2147870607 SLC16A2 Health Risk Likely pathogenic Allan-Herndon-Dudley syndrome, Allan-Herndon-Dudley syndrome
RS2147870613 SLC16A2 Health Risk Pathogenic —
RS2147870614 SLC16A2 Health Risk Pathogenic Allan-Herndon-Dudley syndrome, Allan-Herndon-Dudley syndrome
RS2147871007 SLC16A2 Health Risk Likely pathogenic —
RS2147871831 SLC16A2 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2147871837 SLC16A2 Health Risk Likely pathogenic Allan-Herndon-Dudley syndrome, Allan-Herndon-Dudley syndrome
RS2147871878 SLC16A2 Health Risk Likely pathogenic Allan-Herndon-Dudley syndrome, Spastic paraplegia
RS2147871919 SLC16A2 Health Risk Likely pathogenic Allan-Herndon-Dudley syndrome, Allan-Herndon-Dudley syndrome
RS2147872098 COL4A5 Health Risk Pathogenic —
RS2147872148 COL4A5 Health Risk Pathogenic —
RS2147872245 COL4A5 Health Risk Pathogenic —
RS2147872254 COL4A5 Health Risk Likely pathogenic —
RS2147872291 COL4A5 Health Risk Likely pathogenic See cases, See cases
RS2147872357 COL4A5 Health Risk Pathogenic —
RS2147872358 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2147873472 COL4A5 Health Risk Pathogenic —
RS2147881303 SYP Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2147882650 SYP Health Risk Pathogenic Intellectual disability, X-linked 96
RS2147884161 SYP Health Risk Pathogenic Intellectual disability, X-linked 96
RS2147891252 CACNA1F Health Risk Pathogenic —
RS2147892965 DLG3 Health Risk Pathogenic Intellectual disability, X-linked 90
RS2147894739 CACNA1F Health Risk Pathogenic —
RS2147894816 CACNA1F Health Risk Pathogenic —
RS2147895629 CACNA1F Health Risk Pathogenic Congenital stationary night blindness 2A, Congenital stationary night blindness 2A
RS2147895764 CACNA1F Health Risk Pathogenic —
RS2147895770 CACNA1F Health Risk Likely pathogenic —
RS2147896131 CACNA1F Health Risk Likely pathogenic CACNA1F-related disorder, CACNA1F-related disorder
RS2147897025 CACNA1F Health Risk Pathogenic —
RS2147897090 CACNA1F Health Risk Likely pathogenic Aland island eye disease, Aland island eye disease
RS2147900556 CACNA1F Health Risk Pathogenic Aland island eye disease, Aland island eye disease
RS2147900685 NLGN3 Health Risk Likely pathogenic Autism, susceptibility to
RS2147904608 CACNA1F Health Risk Pathogenic —
RS2147904860 CACNA1F Health Risk Conflicting classifications of pathogenicity —
RS2147905040 CACNA1F Health Risk Likely pathogenic —
RS2147907396 BPTF Health Risk Pathogenic Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
RS2147907436 CACNA1F Health Risk Pathogenic —
RS2147907573 CACNA1F Health Risk Likely pathogenic —
RS2147908102 CACNA1F Health Risk Pathogenic —
RS2147908798 NLGN3 Health Risk Likely pathogenic Autism, susceptibility to
RS2147909115 CACNA1F Health Risk Likely pathogenic —
RS2147909623 CACNA1F Health Risk Conflicting classifications of pathogenicity —
RS2147909707 CACNA1F Health Risk Pathogenic —
RS2147910114 CACNA1F Health Risk Pathogenic —
RS2147910175 CACNA1F Health Risk Pathogenic X-linked cone-rod dystrophy 3, X-linked cone-rod dystrophy 3
RS2147910339 CACNA1F Health Risk Pathogenic —
RS2147911186 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer
RS2147911203 FH Health Risk Pathogenic —
RS2147911225 FH Health Risk Pathogenic/Likely pathogenic Hereditary leiomyomatosis and renal cell cancer, Hereditary cancer-predisposing syndrome
RS2147911262 FH Health Risk Conflicting classifications of pathogenicity —
RS2147911265 FH Health Risk Pathogenic —
RS2147911268 FH Health Risk Pathogenic —
RS2147911364 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2147911365 FH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2147911367 FH Health Risk Pathogenic —
RS2147911550 FH Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2147912005 SYN1 Health Risk Pathogenic Epilepsy, X-linked 1
RS2147912133 SYN1 Health Risk Conflicting classifications of pathogenicity Epilepsy, X-linked 1
RS2147912165 SYN1 Health Risk Pathogenic Epilepsy, X-linked 1
RS2147912333 SYN1 Health Risk Likely pathogenic Epilepsy, X-linked 1
RS2147912440 SYN1 Health Risk Pathogenic Epilepsy, X-linked 1
RS2147912678 SYN1 Health Risk Pathogenic Epilepsy, X-linked 1
RS2147912740 SYN1 Health Risk Pathogenic Epilepsy, X-linked 1
RS2147913041 FH Health Risk Pathogenic/Likely pathogenic Fumarase deficiency, Fumarase deficiency
RS2147913184 FH Health Risk Pathogenic/Likely pathogenic —
RS2147913263 FH Health Risk Pathogenic —
RS2147913278 FH Health Risk Conflicting classifications of pathogenicity —
RS2147913317 FH Health Risk Pathogenic —
RS2147913368 FH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer
RS2147913407 FH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2147913409 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2147913419 SYN1 Health Risk Likely pathogenic Epilepsy, X-linked 1
RS2147913449 FH Health Risk Likely pathogenic Hereditary leiomyomatosis and renal cell cancer, Familial cancer of breast
RS2147914878 FH Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2147914910 FH Health Risk Pathogenic —
RS2147914951 FH Health Risk Likely pathogenic —
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