rs886037856, BHLHA9

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.
Camptosynpolydactyly, Complex
CUI: C1843758
Disease: Camptosynpolydactyly, Complex
1 0.882 0.080 17 1270783 missense variant GA/TT mnv 0.800 1.000 1 2016 2016
Flexion contracture of proximal interphalangeal joint
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
7 0.882 0.080 17 1270783 missense variant GA/TT mnv 0.700 0
Hand polydactyly
CUI: C0158733
Disease: Hand polydactyly
1 0.882 0.080 17 1270783 missense variant GA/TT mnv 0.700 0
Syndactyly of the toes
CUI: C0265660
Disease: Syndactyly of the toes
11 0.882 0.080 17 1270783 missense variant GA/TT mnv 0.700 0