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: rs138213197
rs138213197
HOXB13
24 0.701 0.240 17 48728343 missense variant C/T snv 1.8E-03 1.6E-03 0.030 1.000 3 2013 2017
dbSNP: rs1057519864
rs1057519864
AR
8 0.851 0.080 X 67723707 missense variant T/C snv 0.010 1.000 1 2017 2017
dbSNP: rs1060501201
rs1060501201
TP53
4 0.925 0.080 17 7674190 missense variant T/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs1197734477
rs1197734477
PTEN
4 0.925 0.080 10 87961012 missense variant A/G snv 0.010 1.000 1 2017 2017
dbSNP: rs148609049
rs148609049
ANO7 ; LOC105373971
1 2 241188699 stop gained C/G;T snv 5.5E-03 0.010 < 0.001 1 2018 2018
dbSNP: rs368234815
rs368234815
IFNL4
15 0.742 0.280 19 39248514 frameshift variant TT/G;T delins 0.010 1.000 1 2018 2018