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
RS2480770209 SLC26A2 Health Risk Pathogenic Achondrogenesis, type IB
RS2480770240 SLC26A2 Health Risk Likely pathogenic Achondrogenesis, type IB
RS2480770248 SLC26A2 Health Risk Pathogenic/Likely pathogenic Achondrogenesis, type IB
RS2480770468 SLC26A2 Health Risk Likely pathogenic Achondrogenesis, type IB
RS2480770517 SLC26A2 Health Risk Pathogenic Achondrogenesis, type IB
RS2480770639 SLC26A2 Health Risk Pathogenic Achondrogenesis, type IB
RS2480770713 SLC26A2 Health Risk Likely pathogenic Achondrogenesis, type IB
RS2480770768 SLC26A2 Health Risk Pathogenic Achondrogenesis, type IB
RS2480770954 SLC26A2 Health Risk Pathogenic Achondrogenesis, type IB
RS2480771378 SLC26A2 Health Risk Pathogenic Achondrogenesis, type IB
RS2480771535 SLC26A2 Health Risk Likely pathogenic Achondrogenesis, type IB
RS2480771602 SLC26A2 Health Risk Likely pathogenic Achondrogenesis, type IB
RS2480771712 SLC26A2 Health Risk Pathogenic Achondrogenesis, type IB
RS2480774094 SLC26A2 Health Risk Conflicting classifications of pathogenicity Achondrogenesis, type IB
RS2480774287 SLC26A2 Health Risk Likely pathogenic Achondrogenesis, type IB
RS2480774313 SLC26A2 Health Risk Pathogenic/Likely pathogenic Achondrogenesis, type IB
RS2480774362 SLC26A2 Health Risk Pathogenic Achondrogenesis, type IB
RS2480774496 SLC26A2 Health Risk Likely pathogenic Achondrogenesis, type IB
RS2480774684 SLC26A2 Health Risk Pathogenic Achondrogenesis, type IB
RS2480775090 SLC26A2 Health Risk Likely pathogenic Achondrogenesis, type IB
RS2480775447 SLC26A2 Health Risk Likely pathogenic Achondrogenesis, type IB
RS2480775493 SLC26A2 Health Risk Likely pathogenic Achondrogenesis, type IB
RS2480775838 SLC26A2 Health Risk Likely pathogenic Achondrogenesis, type IB
RS2480776108 SLC26A2 Health Risk Pathogenic Achondrogenesis, type IB
RS2480776192 SLC26A2 Health Risk Pathogenic Achondrogenesis, type IB
RS2480776226 SLC26A2 Health Risk Pathogenic Achondrogenesis, type IB
RS2480776529 SLC26A2 Health Risk Likely pathogenic Achondrogenesis, type IB
RS2480776557 SLC26A2 Health Risk Pathogenic/Likely pathogenic Achondrogenesis, type IB
RS2480776581 BLOC1S5 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 11, Hermansky-Pudlak syndrome 11
RS2480776768 SLC26A2 Health Risk Pathogenic Achondrogenesis, type IB
RS2480776863 SLC26A2 Health Risk Likely pathogenic —
RS2480777083 SLC26A2 Health Risk Pathogenic/Likely pathogenic Achondrogenesis, type IB
RS2480777100 SLC26A2 Health Risk Pathogenic Achondrogenesis, type IB
RS2480777265 SLC26A2 Health Risk Pathogenic/Likely pathogenic Achondrogenesis, type IB
RS2480777667 SLC26A2 Health Risk Pathogenic Achondrogenesis, type IB
RS2480777920 SLC26A2 Health Risk Likely pathogenic Achondrogenesis, type IB
RS2480777937 SLC26A2 Health Risk Likely pathogenic Achondrogenesis, type IB
RS2480778001 SLC26A2 Health Risk Pathogenic/Likely pathogenic Achondrogenesis, type IB
RS2480778034 SLC26A2 Health Risk Pathogenic Achondrogenesis, type IB
RS2480778039 SLC26A2 Health Risk Pathogenic Multiple epiphyseal dysplasia type 4, Atelosteogenesis type II
RS2480778050 SLC26A2 Health Risk Pathogenic Achondrogenesis, type IB
RS2480778118 SLC26A2 Health Risk Pathogenic Achondrogenesis, type IB
RS2480779370 NSD1 Health Risk Likely pathogenic Sotos syndrome, Sotos syndrome
RS2480779488 NSD1 Health Risk Likely pathogenic —
RS2480784692 H4C5 Health Risk Pathogenic Tessadori-Van Haaften neurodevelopmental syndrome 3, Tessadori-Van Haaften neurodevelopmental syndrome 3
RS2480784697 H4C5 Health Risk Pathogenic Tessadori-Van Haaften neurodevelopmental syndrome 3, Tessadori-Van Haaften neurodevelopmental syndrome 3
RS2480784824 H4C5 Health Risk Pathogenic Tessadori-Van Haaften neurodevelopmental syndrome 3, Tessadori-Van Haaften neurodevelopmental syndrome 3
RS2480785279 H4C5 Health Risk Likely pathogenic H4C5-related disorder, H4C5-related disorder
RS2480785483 H4C5 Health Risk Pathogenic/Likely pathogenic Tessadori-Van Haaften neurodevelopmental syndrome 3, Tessadori-Van Haaften neurodevelopmental syndrome 3
RS2480787718 NSD1 Health Risk Likely pathogenic Sotos syndrome, Sotos syndrome
RS2480788504 NSD1 Health Risk Likely pathogenic Sotos syndrome, Sotos syndrome
RS2480793393 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS2480800376 NR2F1 Health Risk Pathogenic Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome
RS2480801085 NR2F1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2480801540 NR2F1 Health Risk Pathogenic —
RS2480802060 NR2F1 Health Risk Conflicting classifications of pathogenicity Bosch-Boonstra-Schaaf optic atrophy syndrome, Epilepsy
RS2480802143 NR2F1 Health Risk Pathogenic —
RS2480802156 NR2F1 Health Risk Conflicting classifications of pathogenicity Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome
RS2480802195 NR2F1 Health Risk Pathogenic Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome
RS2480802211 NR2F1 Health Risk Likely pathogenic —
RS2480802260 NR2F1 Health Risk Likely pathogenic Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome
RS2480802272 NR2F1 Health Risk Pathogenic —
RS2480802300 NR2F1 Health Risk Conflicting classifications of pathogenicity Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome
RS2480802411 NR2F1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2480802503 NR2F1 Health Risk Pathogenic Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome
RS2480802519 NR2F1 Health Risk Pathogenic Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome
RS2480808562 NR2F1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2480808763 NR2F1 Health Risk Conflicting classifications of pathogenicity —
RS2480809148 NR2F1 Health Risk Pathogenic Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome
RS2480809312 NR2F1 Health Risk Pathogenic —
RS2480810792 NSD1 Health Risk Likely pathogenic Sotos syndrome, Sotos syndrome
RS2480810920 NSD1 Health Risk Likely pathogenic NSD1-related disorder, NSD1-related disorder
RS2480811005 NSD1 Health Risk Likely pathogenic Sotos syndrome, Sotos syndrome
RS2480811054 IRF4 Health Risk Pathogenic Immunodeficiency 131, Immunodeficiency 131
RS2480817819 NR2F1 Health Risk Pathogenic Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome
RS2480817831 NR2F1 Health Risk Pathogenic Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome
RS2480817945 NR2F1 Health Risk Likely pathogenic —
RS2480817986 NR2F1 Health Risk Likely pathogenic Autism spectrum disorder, Autism spectrum disorder
RS2480818013 NR2F1 Health Risk Likely pathogenic Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome
RS2480826321 IRF4 Health Risk Pathogenic Immunodeficiency 131, Immunodeficiency 131
RS2480828401 NSD1 Health Risk Pathogenic —
RS2480829068 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS2480829436 NSD1 Health Risk Pathogenic —
RS2480830681 NSD1 Health Risk Pathogenic —
RS2480835055 NSD1 Health Risk Likely pathogenic Sotos syndrome, Sotos syndrome
RS2480837454 NSD1 Health Risk Likely pathogenic Sotos syndrome, Sotos syndrome
RS2480837542 NSD1 Health Risk Likely pathogenic Sotos syndrome, Sotos syndrome
RS2480842251 NSD1 Health Risk Pathogenic —
RS2480842959 FLT4 Health Risk Pathogenic Hereditary lymphedema type I, Hereditary lymphedema type I
RS2480849698 H4C9 Health Risk Pathogenic Tessadori-Van Haaften neurodevelopmental syndrome 4, Tessadori-Van Haaften neurodevelopmental syndrome 4
RS2480849793 FLT4 Health Risk Likely pathogenic —
RS2480849970 H4C9 Health Risk Pathogenic Tessadori-Van Haaften neurodevelopmental syndrome 4, Tessadori-Van Haaften neurodevelopmental syndrome 4
RS2480863500 VARS1 Health Risk Pathogenic —
RS2480864905 VARS1 Health Risk Pathogenic Neurodevelopmental disorder with microcephaly, seizures
RS2480864921 FLT4 Health Risk Likely pathogenic —
RS2480865039 FLT4 Health Risk Likely pathogenic —
RS2480865554 FLT4 Health Risk Pathogenic Hereditary lymphedema type I, Hereditary lymphedema type I
RS2480869226 FLT4 Health Risk Pathogenic FLT4-related disorder, FLT4-related disorder
RS2480880177 FLT4 Health Risk Likely pathogenic Congenital heart defects, multiple types
RS2480883778 FLT4 Health Risk Pathogenic FLT4-related disorder, FLT4-related disorder
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