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
RS1586088968 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS1586090494 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, ankyrin-B-related
RS1586093849 FGFR1 Health Risk Pathogenic —
RS1586101154 NBN Health Risk Pathogenic/Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1586101198 NBN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1586101226 NBN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1586101561 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1586101609 NBN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Microcephaly
RS1586108633 NBN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Microcephaly
RS1586108714 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1586108827 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1586109164 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Aplastic anemia
RS1586110761 SLC20A2 Health Risk Likely pathogenic —
RS1586111679 FGFR1 Health Risk risk factor Hypogonadotropic hypogonadism 2 with anosmia, Hypogonadotropic hypogonadism 2 with anosmia
RS1586112776 FGFR1 Health Risk Conflicting classifications of pathogenicity Hartsfield-Bixler-Demyer syndrome, Hartsfield-Bixler-Demyer syndrome
RS1586114714 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS1586126581 BRAF Health Risk Likely pathogenic Cardio-facio-cutaneous syndrome, RASopathy
RS1586126644 BRAF Health Risk Likely pathogenic —
RS1586127899 NEFL Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease type 2E
RS1586128143 NEFL Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease type 2E
RS1586128169 NEFL Health Risk Likely pathogenic Peripheral neuropathy, Peripheral neuropathy
RS1586140436 BRAF Health Risk Likely pathogenic Cardio-facio-cutaneous syndrome, Cardio-facio-cutaneous syndrome
RS1586140512 BRAF Health Risk Likely pathogenic Cardio-facio-cutaneous syndrome, Cardio-facio-cutaneous syndrome
RS1586144223 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS1586145051 ANK1 Health Risk Pathogenic/Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS1586167794 ANK1 Health Risk Pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS1586169255 PUS7 Health Risk Likely pathogenic —
RS1586172462 FGFR1 Health Risk Likely pathogenic Osteoglophonic dysplasia, Osteoglophonic dysplasia
RS1586182837 TRHR Health Risk Likely pathogenic Hypothyroidism, congenital
RS1586182912 TRHR Health Risk Likely pathogenic Hypothyroidism, congenital
RS1586190048 TRPV6 Health Risk Likely pathogenic Hyperparathyroidism, transient neonatal
RS1586213318 BRAF Health Risk Conflicting classifications of pathogenicity Cardiofaciocutaneous syndrome 1, RASopathy
RS1586216562 RINT1 Health Risk Conflicting classifications of pathogenicity —
RS1586237312 BRAF Health Risk Likely pathogenic Cardiofaciocutaneous syndrome 1, Cardiofaciocutaneous syndrome 1
RS1586244371 EYA1 Health Risk Likely pathogenic Branchiootorenal syndrome 1, Branchiootorenal syndrome 1
RS1586247124 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1586248834 CHD7 Health Risk Pathogenic —
RS1586249038 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1586249260 TRPS1 Health Risk Likely pathogenic Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome
RS1586249559 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1586249808 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1586250578 TRPS1 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III
RS1586251038 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1586254022 TRPS1 Health Risk Likely pathogenic —
RS1586268625 RAD21 Health Risk Likely pathogenic Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4
RS1586272463 RINT1 Health Risk Conflicting classifications of pathogenicity —
RS1586275911 RAD21 Health Risk Pathogenic Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4
RS1586276006 RAD21 Health Risk Pathogenic Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4
RS1586279285 EXT1 Health Risk Pathogenic/Likely pathogenic Exostoses, multiple
RS1586279297 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1586279535 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1586279544 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1586279621 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1586279835 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1586279952 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1586280132 EXT1 Health Risk Pathogenic Exostoses, multiple
RS1586280217 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1586280235 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1586283040 ZFPM2 Health Risk Likely pathogenic —
RS1586285494 SYNE1 Health Risk Pathogenic Arthrogryposis multiplex congenita 3, myogenic type
RS1586285505 ZFPM2 Health Risk Likely pathogenic —
RS1586287678 FGFR1 Health Risk risk factor Hypogonadotropic hypogonadism 2 with anosmia, Hypogonadotropic hypogonadism 2 with anosmia
RS1586287963 FGFR1 Health Risk Likely pathogenic Osteoglophonic dysplasia, Osteoglophonic dysplasia
RS1586296730 SYNE1 Health Risk Pathogenic Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS1586314855 FGFR1 Health Risk Likely pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS1586315809 FGFR1 Health Risk Likely pathogenic —
RS1586329828 SOX17 Health Risk Pathogenic —
RS1586333305 EYA1 Health Risk Pathogenic Melnick-Fraser syndrome, Melnick-Fraser syndrome
RS1586336362 TMEM67 Health Risk Likely pathogenic Joubert syndrome 6, Joubert syndrome 6
RS1586341013 CHD7 Health Risk Pathogenic —
RS1586341138 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1586350727 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1586350854 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1586350990 CHD7 Health Risk Pathogenic —
RS1586352770 CHD7 Health Risk Pathogenic —
RS1586362593 WASHC5 Health Risk Likely pathogenic —
RS1586375906 FGFR1 Health Risk Likely pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS1586379156 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1586379523 FGFR1 Health Risk Likely pathogenic —
RS1586389286 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1586389310 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1586389368 CHD7 Health Risk Pathogenic —
RS1586389929 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1586389979 CHD7 Health Risk Pathogenic —
RS1586390087 WASHC5 Health Risk Pathogenic Inborn genetic diseases, Ritscher-Schinzel syndrome 1
RS1586390136 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1586390236 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1586393514 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS1586393556 CHD7 Health Risk Pathogenic CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS1586393639 CHD7 Health Risk Pathogenic —
RS1586405367 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1586405837 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS1586407193 NDRG1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1586412723 ANK1 Health Risk Likely pathogenic —
RS1586417729 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1586418093 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1586419356 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS1586419497 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1586420419 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1586421317 SFTPC Health Risk Likely pathogenic Interstitial lung disease 2, Interstitial lung disease 2
« Prev 1 ... 1077 1078 1079 1080 1081 1082 1083 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →