Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1210484348
rs1210484348
ABL1
0.925 0.080 9 130884973 missense variant C/T snv 7.0E-06
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.010 1.000 1 2019 2019
dbSNP: rs1210484348
rs1210484348
ABL1
0.925 0.080 9 130884973 missense variant C/T snv 7.0E-06
CUI: C2937220
Disease: Congenital abnormality of vein
Congenital abnormality of vein 		0.010 1.000 1 2019 2019
dbSNP: rs1210484348
rs1210484348
ABL1
0.925 0.080 9 130884973 missense variant C/T snv 7.0E-06
CUI: C0265950
Disease: Venous malformation
Venous malformation 		0.010 1.000 1 2019 2019