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
RS2484368670 GLI3 Health Risk Likely pathogenic —
RS2484369783 GLI3 Health Risk Likely pathogenic —
RS2484370505 GLI3 Health Risk Pathogenic Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS2484371899 GLI3 Health Risk Likely pathogenic GLI3-related disorder, GLI3-related disorder
RS2484372572 GLI3 Health Risk Pathogenic Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS2484373086 GLI3 Health Risk Pathogenic —
RS2484374381 GLI3 Health Risk Pathogenic GLI3-related disorder, GLI3-related disorder
RS2484376042 PLG Health Risk Likely pathogenic PLG-related disorder, PLG-related disorder
RS2484378113 GLI3 Health Risk Likely pathogenic Greig cephalopolysyndactyly syndrome, Polydactyly
RS2484380066 GLI3 Health Risk Likely pathogenic GLI3-related disorder, GLI3-related disorder
RS2484380389 SASH1 Health Risk Likely pathogenic Dyschromatosis universalis hereditaria 1, Dyschromatosis universalis hereditaria 1
RS2484380551 GLI3 Health Risk Pathogenic Pallister-Hall syndrome, Pallister-Hall syndrome
RS2484380642 GLI3 Health Risk Pathogenic Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome
RS2484390976 GLI3 Health Risk Likely pathogenic Greig cephalopolysyndactyly syndrome, Polydactyly
RS2484391036 GLI3 Health Risk Pathogenic Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS2484393292 EYA4 Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1J, Dilated cardiomyopathy 1J
RS2484401756 ANK2 Health Risk Likely pathogenic Long QT syndrome, Long QT syndrome
RS2484418831 GLI3 Health Risk Pathogenic —
RS2484433537 GNAI1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with hypotonia, impaired speech
RS2484435508 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS2484444399 GLI3 Health Risk Pathogenic Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS2484444517 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS2484445815 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS2484450103 GLI3 Health Risk Pathogenic Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome
RS2484465418 DNAJC30 Health Risk Pathogenic Leber-like hereditary optic neuropathy, autosomal recessive 1
RS2484490183 GCK Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS2484491206 GCK Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS2484491222 GCK Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS2484491257 GCK Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS2484491285 GCK Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS2484491317 GCK Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS2484491395 GCK Health Risk Pathogenic Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young type 2
RS2484491439 GCK Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS2484491553 GCK Health Risk Likely pathogenic Monogenic diabetes, Type 2 diabetes mellitus
RS2484491745 GCK Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS2484491913 GCK Health Risk Likely pathogenic Familial hyperinsulinism, Familial hyperinsulinism
RS2484491967 GCK Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS2484492011 GCK Health Risk Pathogenic/Likely pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS2484492019 GCK Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS2484492040 GCK Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS2484492107 GCK Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS2484492158 GCK Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS2484492358 GCK Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS2484492459 GCK Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS2484492504 GCK Health Risk Pathogenic —
RS2484492578 GCK Health Risk Likely pathogenic Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young type 2
RS2484492787 GCK Health Risk Pathogenic Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young type 2
RS2484492810 GCK Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS2484492888 GCK Health Risk Likely pathogenic Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young type 2
RS2484492907 GCK Health Risk Likely pathogenic Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young type 2
RS2484492934 GCK Health Risk Likely pathogenic Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young type 2
RS2484492957 GCK Health Risk Pathogenic Maturity-onset diabetes of the young, Monogenic diabetes
RS2484493345 GCK Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS2484493384 GCK Health Risk Likely pathogenic Maturity-onset diabetes of the young type 2, GCK-related disorder
RS2484493563 GCK Health Risk Pathogenic Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young type 2
RS2484493573 GCK Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS2484493584 GCK Health Risk Likely pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS2484493596 GCK Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS2484493609 GCK Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS2484493618 GCK Health Risk Pathogenic Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young type 2
RS2484493651 GCK Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS2484493664 GCK Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS2484495238 GCK Health Risk Likely pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS2484495664 GCK Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS2484495767 GCK Health Risk Pathogenic Monogenic diabetes, Maturity-onset diabetes of the young type 2
RS2484495820 GCK Health Risk Likely pathogenic Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young type 2
RS2484495896 GCK Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS2484496497 GCK Health Risk Pathogenic/Likely pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS2484496544 GCK Health Risk Pathogenic —
RS2484496778 GCK Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS2484497008 GCK Health Risk Pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS2484497283 GCK Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS2484497313 GCK Health Risk Pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS2484497363 GCK Health Risk Pathogenic —
RS2484497519 GCK Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS2484497707 GCK Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS2484497875 GCK Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS2484498146 GCK Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS2484498241 GCK Health Risk Pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS2484498603 GCK Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS2484498715 GCK Health Risk Likely pathogenic —
RS2484498786 GCK Health Risk Likely pathogenic —
RS2484504701 AHI1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS2484505724 GCK Health Risk Pathogenic/Likely pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS2484505927 GCK Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS2484505962 GCK Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS2484506114 GCK Health Risk Pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS2484506355 AHI1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Joubert syndrome 3
RS2484506435 GCK Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS2484506568 GCK Health Risk Pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS2484506820 GCK Health Risk Pathogenic Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young type 2
RS2484507006 GCK Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS2484507211 GCK Health Risk Pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS2484507251 GCK Health Risk Likely pathogenic Monogenic diabetes, Maturity-onset diabetes of the young
RS2484507297 GCK Health Risk Pathogenic —
RS2484507546 GCK Health Risk Pathogenic/Likely pathogenic Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young type 2
RS2484508005 AHI1 Health Risk Likely pathogenic Joubert syndrome, Joubert syndrome
RS2484512979 GCK Health Risk Likely pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS2484513063 GCK Health Risk Pathogenic —
RS2484513130 GCK Health Risk Likely pathogenic —
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