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: rs1215603718
rs1215603718
AQP1
3 0.882 0.080 7 30922217 missense variant G/A snv 4.2E-06 0.010 1.000 1 2000 2000
dbSNP: rs121917869
rs121917869
MIP
4 0.851 0.080 12 56453715 missense variant T/C;G snv 0.010 1.000 1 2000 2000
dbSNP: rs28937573
rs28937573
HSF4
3 0.882 0.080 16 67165841 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs749607649
rs749607649
BFSP2 ; BFSP2-AS1
1 1.000 0.080 3 133466952 missense variant G/A snv 2.4E-05 4.9E-05 0.010 1.000 1 2008 2008
dbSNP: rs760755004
rs760755004
IL2RG
2 0.925 0.080 X 71110182 missense variant G/A snv 1.1E-05 0.010 1.000 1 2006 2006
dbSNP: rs79121622
rs79121622
HSF4
5 0.827 0.080 16 67165833 missense variant G/A snv 3.3E-04 9.8E-05 0.010 < 0.001 1 2014 2014