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: rs12191786
rs12191786
CASC15
4 0.851 0.120 6 22004398 intron variant C/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs121917864
rs121917864
TLR2
31 0.645 0.520 4 153704936 missense variant C/T snv 8.8E-05 9.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs16864812
rs16864812
TP63
1 1.000 0.040 3 189816275 intron variant A/C snv 0.34 0.010 1.000 1 2019 2019
dbSNP: rs5743708
rs5743708
TLR2
98 0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02 0.010 < 0.001 1 2018 2018
dbSNP: rs9810322
rs9810322
TP63
1 1.000 0.040 3 189826185 intron variant C/T snv 0.34 0.010 1.000 1 2019 2019