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: rs121434480
rs121434480
HPGD
2 0.925 0.080 4 174508699 missense variant C/G snv 7.6E-05 7.0E-06 0.800 1.000 1 2008 2008
dbSNP: rs587777719
rs587777719
HPGD
1 1.000 0.080 4 174517984 frameshift variant AG/- delins 1.4E-05 0.700 1.000 1 2014 2014
dbSNP: rs375335006
rs375335006
HPGD
1 1.000 0.080 4 174495600 missense variant G/A;C snv 1.2E-05 0.700 0
dbSNP: rs548208942
rs548208942
HPGD ; LOC105377548
1 1.000 0.080 4 174521985 frameshift variant AG/- delins 1.5E-04 0.700 0
dbSNP: rs577045722
rs577045722
HPGD ; LOC105377548
1 1.000 0.080 4 174522451 start lost T/A;C snv 5.5E-06; 2.2E-05 0.700 0
dbSNP: rs587776676
rs587776676
HPGD
1 1.000 0.080 4 174518054 frameshift variant GGTCTACAAC/TG delins 0.700 0