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
RS2534527251 FAM20C Health Risk Pathogenic —
RS2534527721 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS2534528339 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS2534528568 COL11A2 Health Risk Pathogenic —
RS2534537041 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS2534551107 TCOF1 Health Risk Likely pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS2534553255 COL11A2 Health Risk Pathogenic —
RS2534553960 COL11A2 Health Risk Pathogenic —
RS2534568745 COL11A2 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia
RS2534570132 COL11A2 Health Risk Likely pathogenic —
RS2534583808 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2534585440 RPGR Health Risk Pathogenic —
RS2534585612 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2534585759 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2534588927 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2534589152 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2534596060 DNAH11 Health Risk Likely pathogenic DNAH11-related disorder, Primary ciliary dyskinesia
RS2534596587 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS2534597561 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2534597888 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2534599431 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2534627208 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2534627646 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2534628664 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2534628821 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2534633028 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2534633050 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2534633649 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2534633877 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2534633898 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2534634118 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia 7, Primary ciliary dyskinesia 7
RS2534634175 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia 7, Primary ciliary dyskinesia 7
RS2534636903 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia 7, Primary ciliary dyskinesia 7
RS2534641075 TCOF1 Health Risk Likely pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS2534642231 TCOF1 Health Risk Pathogenic/Likely pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS2534650172 COL11A2 Health Risk Pathogenic —
RS2534652321 AARS2 Health Risk Pathogenic —
RS2534653268 AGR2 Health Risk Likely pathogenic Respiratory infections, recurrent
RS2534653912 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2534662475 COL11A2 Health Risk Likely pathogenic —
RS2534678614 NT5C3A Health Risk Likely pathogenic —
RS2534679858 NT5C3A Health Risk Pathogenic —
RS2534685364 COL11A2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 53, Autosomal dominant nonsyndromic hearing loss 13
RS2534689330 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2534689583 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2534689898 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2534692311 NT5C3A Health Risk Pathogenic —
RS2534693553 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2534694045 DNAH11 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2534699942 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2534707554 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2534710256 FAM20C Health Risk Likely pathogenic FAM20C-related disorder, FAM20C-related disorder
RS2534710292 FAM20C Health Risk Pathogenic —
RS2534710940 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2534711045 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2534711439 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2534724610 EGFR Health Risk Pathogenic EGFR-related lung cancer, EGFR-related lung cancer
RS2534726018 EGFR Health Risk Likely pathogenic EGFR-related lung cancer, EGFR-related lung cancer
RS2534732785 AARS2 Health Risk Likely pathogenic AARS2-related disorder, AARS2-related disorder
RS2534735106 FAM20C Health Risk Pathogenic/Likely pathogenic FAM20C-related disorder, FAM20C-related disorder
RS2534737928 FAM20C Health Risk Pathogenic —
RS2534738114 FAM20C Health Risk Likely pathogenic Lethal osteosclerotic bone dysplasia, Lethal osteosclerotic bone dysplasia
RS2534743360 COL11A2 Health Risk Pathogenic COL11A2-related disorder, COL11A2-related disorder
RS2534754715 MCM9 Health Risk Likely pathogenic —
RS2534769431 EGFR Health Risk Pathogenic Lung cancer, Lung cancer
RS2534769494 EGFR Health Risk Likely pathogenic Lung adenocarcinoma, Lung adenocarcinoma
RS2534772431 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2534777249 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2534777695 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS2534781832 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2534781889 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2534792976 MARVELD2 Health Risk Pathogenic —
RS2534796103 COL11A2 Health Risk Likely pathogenic COL11A2-related disorder, COL11A2-related disorder
RS2534803364 HOXA11 Health Risk Likely pathogenic Mesomelic dysplasia with urogenital abnormalities, Mesomelic dysplasia with urogenital abnormalities
RS2534803515 HOXA11 Health Risk Likely pathogenic Inherited genitourinary tract anomalies, Inherited genitourinary tract anomalies
RS2534810137 COL11A2 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 53, Autosomal dominant nonsyndromic hearing loss 13
RS2534811532 KLHL7 Health Risk Pathogenic —
RS2534813697 DST Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2534823217 ARID1B Health Risk Pathogenic ARID1B-related disorder, ARID1B-related disorder
RS2534824930 ARID1B Health Risk Pathogenic —
RS2534826365 HOXA13;LOC107126288 Health Risk Likely pathogenic Hand-foot-genital syndrome, Hand-foot-genital syndrome
RS2534826601 HOXA13 Health Risk Likely pathogenic Hand-foot-genital syndrome, Hand-foot-genital syndrome
RS2534827749 HOXA13 Health Risk Pathogenic Hand-foot-genital syndrome, Hand-foot-genital syndrome
RS2534827764 HOXA13 Health Risk Pathogenic Hand-foot-genital syndrome, Hand-foot-genital syndrome
RS2534830355 DNAH11 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS2534830850 DST Health Risk Pathogenic Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS2534838713 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2534838847 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2534838919 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2534839400 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2534839540 CACNA1C Health Risk Pathogenic —
RS2534839862 COL11A2 Health Risk Pathogenic —
RS2534848742 COL11A2 Health Risk Likely pathogenic —
RS2534855634 EYA4 Health Risk Pathogenic —
RS2534855814 EYA4 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 10, Autosomal dominant nonsyndromic hearing loss 10
RS2534856605 EGFR Health Risk Pathogenic EGFR-related lung cancer, EGFR-related lung cancer
RS2534858294 EYA4 Health Risk Likely pathogenic —
RS2534860329 KLHL7 Health Risk Likely pathogenic —
RS2534860969 KLHL7 Health Risk Likely pathogenic KLHL7-related disorder, Retinitis pigmentosa 42
RS2534860980 KLHL7 Health Risk Likely pathogenic KLHL7-related disorder, Retinitis pigmentosa 42
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