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: rs352140
rs352140
TLR9
42 0.630 0.680 3 52222681 synonymous variant C/A;G;T snv 2.0E-05; 0.49 0.010 1.000 1 2017 2017
dbSNP: rs3745274
rs3745274
CYP2B6
30 0.672 0.480 19 41006936 missense variant G/A;T snv 4.0E-06; 0.27 0.010 1.000 1 2017 2017
dbSNP: rs2204985
rs2204985
LOC105370401
1 14 22448641 intron variant G/A snv 0.52 0.010 1.000 1 2018 2018
dbSNP: rs28931594
rs28931594
GJB2
9 0.790 0.280 13 20189434 missense variant C/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs8177832
rs8177832
APOBEC3G
5 0.851 0.160 22 39081561 missense variant A/G snv 5.9E-02 0.14 0.010 1.000 1 2018 2018
dbSNP: rs1015164
rs1015164
CCRL2
8 0.925 3 46410189 intron variant A/C;G;T snv 0.010 1.000 1 2019 2019