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: rs3824662
rs3824662
GATA3
11 0.752 0.320 10 8062245 intron variant C/A;T snv 0.010 < 0.001 1 2018 2018
dbSNP: rs12720270
rs12720270
TYK2
4 0.851 0.240 19 10365084 intron variant G/A snv 0.21 0.16 0.010 1.000 1 2019 2019
dbSNP: rs12720356
rs12720356
TYK2
12 0.752 0.360 19 10359299 missense variant A/C;G snv 6.1E-02; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs2304256
rs2304256
TYK2
13 0.732 0.360 19 10364976 missense variant C/A snv 0.27 0.23 0.010 1.000 1 2019 2019
dbSNP: rs280500
rs280500
TYK2
3 0.882 0.200 19 10379726 5 prime UTR variant A/G snv 0.20 0.010 1.000 1 2019 2019
dbSNP: rs28362930
rs28362930
SEMA7A
3 0.925 0.160 15 74408859 downstream gene variant G/A snv 0.16 0.010 1.000 1 2019 2019
dbSNP: rs34536443
rs34536443
TYK2
25 0.667 0.400 19 10352442 missense variant G/C snv 2.7E-02 2.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs741761
rs741761
SEMA7A ; MIR6881
3 0.882 0.200 15 74411588 missense variant T/A;C snv 1.8E-04; 0.35 0.010 1.000 1 2019 2019
dbSNP: rs1051169
rs1051169
S100B
5 0.851 0.200 21 46602317 synonymous variant C/A;G;T snv 0.65 0.010 1.000 1 2020 2020