rs1210484348, ABL1

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.
Abetalipoproteinemia
CUI: C0000744
Disease: Abetalipoproteinemia
19 0.925 0.080 9 130884973 missense variant C/T snv 7.0E-06 0.010 1.000 1 2019 2019
Congenital abnormality of vein
CUI: C2937220
Disease: Congenital abnormality of vein
7 0.925 0.080 9 130884973 missense variant C/T snv 7.0E-06 0.010 1.000 1 2019 2019
Venous malformation
CUI: C0265950
Disease: Venous malformation
3 0.925 0.080 9 130884973 missense variant C/T snv 7.0E-06 0.010 1.000 1 2019 2019