rs3738880, GLI2

N. diseases: 4
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Anorectal Malformations
CUI: C3495676
Disease: Anorectal Malformations
6 0.882 0.160 2 120989380 missense variant G/T snv 0.63 0.61 0.010 1.000 1 2017 2017
Congenital malformation syndrome
CUI: C1302790
Disease: Congenital malformation syndrome
2 0.882 0.160 2 120989380 missense variant G/T snv 0.63 0.61 0.010 1.000 1 2017 2017
Miscarriage
CUI: C4552766
Disease: Miscarriage
56 0.882 0.160 2 120989380 missense variant G/T snv 0.63 0.61 0.010 1.000 1 2017 2017
Skeletal malocclusion
CUI: C3874346
Disease: Skeletal malocclusion
3 0.882 0.160 2 120989380 missense variant G/T snv 0.63 0.61 0.010 1.000 1 2019 2019