Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121917768
rs121917768
UMOD
1 1.000 0.240 16 20349071 missense variant C/G;T snv 0.800 1.000 14 2002 2015