rs1060499548, ABL1

N. diseases: 27
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.
Upward slant of palpebral fissure
CUI: C0423109
Disease: Upward slant of palpebral fissure
16 0.724 0.440 9 130872961 missense variant G/A snv 0.700 1.000 1 2017 2017
CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME
CUI: C4539857
Disease: CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME
2 0.724 0.440 9 130872961 missense variant G/A snv 0.800 0