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: rs1553445945
rs1553445945
RANBP2 ; EDAR
1 1.000 0.080 2 108912677 splice donor variant C/T snv 0.700 1.000 1 2006 2006
dbSNP: rs144078282
rs144078282
CLPB
9 0.776 0.400 11 72302339 missense variant T/A;C snv 1.8E-04; 2.0E-04 0.700 0
dbSNP: rs1553275192
rs1553275192
PKP1
2 0.925 0.080 1 201316692 stop gained C/T snv 0.700 0
dbSNP: rs200203460
rs200203460
CLPB
9 0.776 0.400 11 72302312 stop gained G/A;C;T snv 2.8E-05 0.700 0
dbSNP: rs387907197
rs387907197
EDA
2 0.925 0.080 X 70033430 missense variant C/T snv 0.700 0
dbSNP: rs1173679499
rs1173679499
TP63
5 0.827 0.280 3 189869372 missense variant G/A snv 4.0E-06 0.020 1.000 2 2004 2008
dbSNP: rs1033252267
rs1033252267
CD28
3 0.882 0.200 2 203729681 missense variant G/T snv 0.010 1.000 1 2010 2010
dbSNP: rs104894281
rs104894281
NECTIN1
3 0.882 0.320 11 119677734 stop gained C/T snv 0.010 1.000 1 2006 2006
dbSNP: rs132630321
rs132630321
EDA
4 0.851 0.120 X 70035446 missense variant C/T snv 5.5E-06 9.6E-06 0.010 1.000 1 2019 2019
dbSNP: rs137853327
rs137853327
IKBKG
3 0.882 0.160 X 154564418 missense variant A/T snv 0.010 1.000 1 2013 2013
dbSNP: rs147680216
rs147680216
WNT10A
11 0.742 0.160 2 218890244 missense variant G/A snv 2.1E-03 6.9E-04 0.010 1.000 1 2017 2017
dbSNP: rs28933100
rs28933100
NFKBIA
2 0.925 0.120 14 35404550 missense variant C/A;T snv 0.010 < 0.001 1 2007 2007
dbSNP: rs4797100
rs4797100
MYOM1
1 1.000 0.080 18 3138555 intron variant A/G snv 0.25 0.010 1.000 1 2015 2015
dbSNP: rs56240927
rs56240927
FGFR3
1 1.000 0.080 4 1804906 missense variant C/T snv 1.3E-03 8.2E-04 0.010 1.000 1 2019 2019
dbSNP: rs763088741
rs763088741
PAX9
1 1.000 0.080 14 36676439 missense variant C/T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs9284390
rs9284390
ROCK1P1 ; MIR8078
1 1.000 0.080 18 112535 non coding transcript exon variant G/A;C;T snv 0.010 1.000 1 2015 2015