SERPINA1, serpin family A member 1, 5265

N. diseases: 482; N. variants: 61
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121912714
rs121912714
0.882 0.160 14 94380949 missense variant T/A snv 4.7E-04 3.3E-04
CUI: C4021780
Disease: Abnormality of the liver
Abnormality of the liver
0.700 1.000 1 1989 1989
dbSNP: rs28929474
rs28929474
0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02
CUI: C4021780
Disease: Abnormality of the liver
Abnormality of the liver
0.700 1.000 1 1985 1985
dbSNP: rs199422209
rs199422209
0.882 0.160 14 94378528 missense variant G/A;C;T snv 4.8E-05; 1.2E-05; 3.2E-05
CUI: C4021780
Disease: Abnormality of the liver
Abnormality of the liver
0.700 0