Source: CURATED ×
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: rs13114738
rs13114738
SLC39A8
16 0.851 0.120 4 102363708 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs629301
rs629301
CELSR2
22 0.851 0.120 1 109275684 3 prime UTR variant G/T snv 0.74 0.700 1.000 1 2016 2016
dbSNP: rs6533530
rs6533530 		16 0.851 0.120 4 110810780 intergenic variant T/C snv 0.47 0.700 1.000 1 2016 2016
dbSNP: rs7690819
rs7690819 		3 1.000 0.040 4 111199502 intergenic variant A/G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs4506565
rs4506565
TCF7L2
19 0.790 0.280 10 112996282 intron variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs17137004
rs17137004
FOXP2
2 1.000 0.040 7 114389196 intron variant A/G snv 0.38 0.700 1.000 1 2019 2019
dbSNP: rs964184
rs964184
ZPR1
38 0.716 0.440 11 116778201 3 prime UTR variant G/C snv 0.82 0.700 1.000 1 2016 2016
dbSNP: rs7115242
rs7115242
SIK3
16 0.851 0.120 11 117037567 intron variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs12369179
rs12369179
ZCCHC8
16 0.851 0.120 12 122479003 intron variant C/T snv 5.9E-02 0.700 1.000 1 2016 2016
dbSNP: rs12420422
rs12420422 		16 0.851 0.120 11 123009573 intergenic variant G/A snv 3.4E-02 0.700 1.000 1 2016 2016
dbSNP: rs7632505
rs7632505
SEMA5B
16 0.827 0.120 3 123019460 intron variant A/G snv 0.34 0.700 1.000 1 2016 2016
dbSNP: rs62435145
rs62435145 		8 1.000 0.040 7 1246931 regulatory region variant G/T snv 0.51 0.700 1.000 1 2019 2019
dbSNP: rs2980853
rs2980853 		16 0.851 0.120 8 125466108 upstream gene variant A/C snv 0.43 0.700 1.000 1 2016 2016
dbSNP: rs6978712
rs6978712
LOC105375490
3 1.000 0.040 7 127507709 intergenic variant C/T snv 0.11 0.700 1.000 1 2014 2014
dbSNP: rs13427836
rs13427836
HS6ST1
2 1.000 0.040 2 128270387 intron variant C/T snv 0.11 0.700 1.000 1 2016 2016
dbSNP: rs56013828
rs56013828
ARG1
3 1.000 0.040 6 131511584 intron variant G/A snv 0.20 0.700 1.000 1 2019 2019
dbSNP: rs77559408
rs77559408
THSD7B
3 1.000 0.040 2 137542339 intron variant T/C snv 3.2E-02 0.700 1.000 1 2018 2018
dbSNP: rs1869717
rs1869717
MAML3
16 0.851 0.120 4 139829967 intron variant G/C snv 0.14 0.700 1.000 1 2016 2016
dbSNP: rs222826
rs222826 		16 0.851 0.120 2 146120964 regulatory region variant T/C snv 0.94 0.700 1.000 1 2016 2016
dbSNP: rs59825600
rs59825600
KAZN ; LOC105376759
2 1.000 0.040 1 14806568 intron variant G/A snv 0.11 0.700 1.000 1 2019 2019
dbSNP: rs10224210
rs10224210
PRKAG2
9 1.000 0.040 7 151716108 intron variant T/C snv 0.21 0.700 1.000 1 2019 2019
dbSNP: rs10224002
rs10224002
PRKAG2
10 0.925 0.080 7 151717955 intron variant A/G snv 0.31 0.700 1.000 1 2018 2018
dbSNP: rs3765209
rs3765209
LOC101927745
7 0.851 0.040 21 15417030 intron variant C/T snv 0.31 0.700 1.000 1 2019 2019
dbSNP: rs145590578
rs145590578
SLC22A2
3 1.000 0.040 6 160236104 intron variant GTT/- delins 9.8E-02 0.700 1.000 1 2019 2019
dbSNP: rs74617384
rs74617384
LPA
5 0.925 0.080 6 160576086 intron variant A/G;T snv 0.700 1.000 1 2018 2018