F2, coagulation factor II, thrombin, 2147

N. diseases: 490; N. variants: 42
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: rs552953108
rs552953108
0.724 0.200 11 46729529 missense variant G/A snv 1.6E-05 4.2E-05
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 1998 1998