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: rs1057518422
rs1057518422
TAB2
5 0.846 0.214 6 149378954 stop gained C/T snp 0.700 1 2015 2015
dbSNP: rs1057518920
rs1057518920
DSP
5 1.000 0.036 6 7575386 stop gained C/A snp 0.700 1 2015 2015
dbSNP: rs1057518788
rs1057518788
DSG1
2 0.923 0.107 18 31331787 stop gained G/T snp 0.700 0
dbSNP: rs1155705
rs1155705
TGFBR2
1 1.000 0.036 3 30644922 splice region variant A/G,T snp 0.37 0.37 0.010 1.000 1 2016 2016
dbSNP: rs12857479
rs12857479
TEX26
1 1.000 0.036 13 30956872 splice acceptor variant G/A snp 0.35 0.29 0.010 1.000 1 2016 2016
dbSNP: rs141950357
rs141950357
GATA5
1 1.000 0.036 20 62475026 missense variant C/A,T snp 2.0E-03 1.3E-04 0.010 1.000 1 2012 2012
dbSNP: rs17290301
rs17290301
EGFR
1 1.000 0.036 7 55173189 intron variant G/A snp 2.0E-02 0.010 1.000 1 2016 2016
dbSNP: rs200383755
rs200383755
GATA5
1 1.000 0.036 20 62475466 missense variant G/C snp 3.4E-03 3.5E-03 0.010 1.000 1 2012 2012
dbSNP: rs2277923
rs2277923
NKX2-5
3 0.923 0.036 5 173235021 synonymous variant T/C snp 0.41 0.43 0.010 1.000 1 2016 2016
dbSNP: rs533525993
rs533525993
EGFR
1 1.000 0.036 7 55165435 splice region variant C/T snp 2.4E-04 6.4E-05 0.010 1.000 1 2016 2016
dbSNP: rs61751489
rs61751489
NOTCH1
1 1.000 0.036 9 136496886 missense variant C/T snp 3.1E-02 1.2E-02 0.010 1.000 1 2016 2016