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: rs137853892
rs137853892
SERPINH1
2 0.925 0.120 11 75566582 missense variant T/C snv 0.800 1.000 1 2010 2010
dbSNP: rs1565244847
rs1565244847
SERPINH1
1 1.000 11 75572058 frameshift variant -/T delins 0.700 0
dbSNP: rs886039819
rs886039819
SERPINH1
1 1.000 11 75568818 missense variant T/C snv 0.700 0