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: rs121909048
rs121909048
HSF4
1 1.000 16 67165827 missense variant T/C snv 0.800 1.000 2 2002 2006
dbSNP: rs121909049
rs121909049
HSF4
1 1.000 16 67164867 missense variant C/A snv 0.800 1.000 2 2002 2006
dbSNP: rs121909050
rs121909050
HSF4
1 1.000 16 67165742 missense variant A/G snv 0.800 1.000 2 2002 2006
dbSNP: rs28937573
rs28937573
HSF4
3 0.882 0.080 16 67165841 missense variant C/T snv 0.800 1.000 2 2002 2006
dbSNP: rs1555549755
rs1555549755
HSF4
1 1.000 16 67164900 frameshift variant A/- del 0.700 1.000 1 2013 2013
dbSNP: rs1060505041
rs1060505041
NACC1
34 0.716 0.400 19 13136099 missense variant C/A;T snv 0.700 0
dbSNP: rs1456161420
rs1456161420
HSF4 ; NOL3
1 1.000 16 67169277 splice acceptor variant A/G snv 2.0E-05 0.700 0
dbSNP: rs1555575860
rs1555575860
COG4
31 0.732 0.240 16 70496367 missense variant C/G;T snv 0.700 0
dbSNP: rs1567668570
rs1567668570
HSF4
1 1.000 16 67165838 missense variant C/T snv 0.700 0