rs672601337, BHLHA9

N. diseases: 3
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.
Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction
CUI: C1836206
Disease: Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction
3 0.882 0.080 17 1270774 missense variant A/G snv 0.800 1.000 1 2014 2014
Abnormality of the metacarpal bones
CUI: C4021785
Disease: Abnormality of the metacarpal bones
3 0.882 0.080 17 1270774 missense variant A/G snv 0.700 0
Abnormality of the skeletal system
CUI: C4021790
Disease: Abnormality of the skeletal system
18 0.882 0.080 17 1270774 missense variant A/G snv 0.700 0