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
RS2147945853 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
RS2147945859 GJB1 Health Risk Likely pathogenic Hand muscle atrophy, Hand muscle atrophy
RS2147946042 KIDINS220 Health Risk Pathogenic —
RS2147946047 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease X-linked dominant 1
RS2147946105 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
RS2147946194 GJB1 Health Risk Likely pathogenic Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
RS2147946234 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
RS2147946319 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
RS2147946477 PHKA2 Health Risk Likely pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS2147946493 GJB1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease X-linked dominant 1
RS2147946914 GJB1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease X-linked dominant 1
RS2147947315 FOXP3 Health Risk Pathogenic Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
RS2147947336 KIDINS220 Health Risk Likely pathogenic KCNA1-related disorder, KCNA1-related disorder
RS2147947553 FOXP3 Health Risk Likely pathogenic Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome, Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
RS2147948858 FOXP3 Health Risk Likely pathogenic Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
RS2147949090 FOXP3 Health Risk Likely pathogenic Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
RS2147949186 FOXP3 Health Risk Pathogenic Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
RS2147949202 FOXP3 Health Risk Pathogenic Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
RS2147949777 FOXP3 Health Risk Pathogenic Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
RS2147950429 ATRX Health Risk Pathogenic Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS2147953043 COL4A5 Health Risk Likely pathogenic —
RS2147953060 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2147953102 COL4A5 Health Risk Likely pathogenic Nonpapillary renal cell carcinoma, Nonpapillary renal cell carcinoma
RS2147954328 PHKA2 Health Risk Likely pathogenic Glycogen storage disease IXa1, Thyroid cancer
RS2147954334 PHKA2 Health Risk Likely pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS2147954548 BPTF Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2147955072 COL4A5 Health Risk Pathogenic —
RS2147955255 COL4A5 Health Risk Likely pathogenic —
RS2147955813 KDM6A Health Risk Likely pathogenic —
RS2147956337 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2147956419 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2147957369 LZTR1 Health Risk Pathogenic —
RS2147958526 PHKA2 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS2147959076 KDM6A Health Risk Pathogenic Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
RS2147959089 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2147959120 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2147959392 COL4A5 Health Risk Likely pathogenic Alport syndrome, Alport syndrome
RS2147959471 COL4A5 Health Risk Conflicting classifications of pathogenicity X-linked Alport syndrome, X-linked Alport syndrome
RS2147959671 COL4A5 Health Risk Likely pathogenic —
RS2147959745 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2147959756 LZTR1 Health Risk Pathogenic —
RS2147959775 COL4A5 Health Risk Likely pathogenic —
RS2147961498 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2147961500 LZTR1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2147961992 LZTR1 Health Risk Likely pathogenic Noonan syndrome 2, Noonan syndrome 2
RS2147962049 LZTR1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS2147962064 LZTR1 Health Risk Pathogenic Emery-Dreifuss muscular dystrophy, Schwannomatosis
RS2147962725 LZTR1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS2147963152 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2147963355 LZTR1 Health Risk Pathogenic —
RS2147963446 KDM6A Health Risk Pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS2147963975 PCNT Health Risk Pathogenic/Likely pathogenic —
RS2147964011 LZTR1 Health Risk Conflicting classifications of pathogenicity LZTR1-related disorder, Hereditary cancer-predisposing syndrome
RS2147964025 LZTR1 Health Risk Conflicting classifications of pathogenicity —
RS2147964053 LZTR1 Health Risk Pathogenic/Likely pathogenic LZTR1-related schwannomatosis, LZTR1-related schwannomatosis
RS2147964105 LZTR1 Health Risk Pathogenic Noonan syndrome, Noonan syndrome 10
RS2147964938 LZTR1 Health Risk Pathogenic —
RS2147964939 LZTR1 Health Risk Pathogenic —
RS2147965105 LZTR1 Health Risk Pathogenic —
RS2147965376 LZTR1 Health Risk Pathogenic —
RS2147965388 LZTR1 Health Risk Pathogenic —
RS2147965393 LZTR1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS2147965456 LZTR1 Health Risk Pathogenic —
RS2147965479 LZTR1 Health Risk Pathogenic —
RS2147966059 LZTR1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2147966067 LZTR1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS2147966682 LZTR1 Health Risk Likely pathogenic —
RS2147967090 LZTR1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome and Noonan-related syndrome, Cardiovascular phenotype
RS2147967332 LZTR1 Health Risk Pathogenic —
RS2147967929 LZTR1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS2147968114 LZTR1 Health Risk Pathogenic —
RS2147968271 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2147968331 LZTR1 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2147968487 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2147968505 LZTR1 Health Risk Likely pathogenic Noonan syndrome and Noonan-related syndrome, Noonan syndrome and Noonan-related syndrome
RS2147969206 LZTR1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS2147969337 LZTR1 Health Risk Pathogenic —
RS2147969560 LZTR1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS2147969603 LZTR1 Health Risk Pathogenic —
RS2147970361 LZTR1 Health Risk Pathogenic —
RS2147970527 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2147970908 LZTR1 Health Risk Likely pathogenic —
RS2147971083 LZTR1 Health Risk Pathogenic Noonan syndrome 10, Noonan syndrome 10
RS2147972073 PHKA2 Health Risk Likely pathogenic —
RS2147972085 PHKA2 Health Risk Likely pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS2147973166 EFNB1 Health Risk Pathogenic Craniofrontonasal syndrome, Craniofrontonasal syndrome
RS2147973177 EFNB1 Health Risk Likely pathogenic Craniofrontonasal syndrome, Craniofrontonasal syndrome
RS2147974770 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2147974808 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2147974833 COL4A5 Health Risk Likely pathogenic —
RS2147974914 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2147975020 COL4A5 Health Risk Likely pathogenic Alport syndrome, Alport syndrome
RS2147975083 COL4A5 Health Risk Pathogenic —
RS2147975121 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2147975180 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2147975189 COL4A5 Health Risk Pathogenic —
RS2147975210 COL4A5 Health Risk Likely pathogenic —
RS2147975941 KDM6A Health Risk Pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS2147975970 COLEC11 Health Risk Pathogenic 3MC syndrome 2, 3MC syndrome 2
RS2147976439 EFNB1 Health Risk Pathogenic —
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