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: rs4369779
rs4369779
CABLES1
1 18 23155444 intron variant T/A;C snv 0.700 1.000 5 2014 2019
dbSNP: rs1265097
rs1265097
PSORS1C1 ; PSORS1C2
1 6 31138682 missense variant C/A;T snv 0.13; 4.0E-06 0.700 1.000 3 2014 2019
dbSNP: rs7214743
rs7214743 		1 17 61420691 intergenic variant A/G;T snv 0.700 1.000 3 2018 2019
dbSNP: rs7513464
rs7513464 		1 1 118307139 regulatory region variant G/C snv 0.30 0.700 1.000 3 2015 2019
dbSNP: rs1007358
rs1007358 		1 7 46161757 intergenic variant A/G snv 0.23 0.700 1.000 2 2014 2019
dbSNP: rs10460436
rs10460436 		1 2 231950631 intergenic variant G/A snv 5.7E-02 0.700 1.000 2 2015 2019
dbSNP: rs10519302
rs10519302
CYP19A1
1 15 51307486 intron variant A/G snv 0.20 0.700 1.000 2 2015 2019
dbSNP: rs10878984
rs10878984 		1 12 69434754 intergenic variant C/T snv 0.42 0.700 1.000 2 2017 2019
dbSNP: rs113382956
rs113382956
CHAF1B ; MORC3
1 21 36378531 intron variant T/A;C snv 0.700 1.000 2 2019 2019
dbSNP: rs11588850
rs11588850
SNAP47
1 1 227739541 intron variant A/G snv 0.11 0.700 1.000 2 2017 2019
dbSNP: rs11783772
rs11783772
PLEC
1 8 143934275 intron variant A/T snv 0.33 0.29 0.700 1.000 2 2019 2019
dbSNP: rs12222197
rs12222197
VSIG10L2
1 11 125955329 intron variant G/T snv 0.53 0.700 1.000 2 2019 2019
dbSNP: rs12410416
rs12410416
DNM3
1 1 172224680 intron variant T/C snv 0.17 0.700 1.000 2 2015 2019
dbSNP: rs12811171
rs12811171
B4GALNT3
1 12 471606 intron variant C/G;T snv 0.700 1.000 2 2017 2019
dbSNP: rs13131350
rs13131350
LCORL
1 4 17875864 synonymous variant A/G snv 0.13 0.700 1.000 2 2015 2019
dbSNP: rs13427672
rs13427672
DNMT3A
1 2 25250442 intron variant G/A snv 0.43 0.700 1.000 2 2017 2019
dbSNP: rs1401795
rs1401795 		1 17 56762291 intergenic variant A/G snv 0.48 0.700 1.000 2 2014 2019
dbSNP: rs143840904
rs143840904
KCNQ1
1 11 2792092 intron variant C/T snv 1.5E-02 0.700 1.000 2 2019 2019
dbSNP: rs16895802
rs16895802
NCAPG
1 4 17814266 intron variant C/G snv 1.4E-02 0.700 1.000 2 2015 2019
dbSNP: rs16950303
rs16950303
DYM
1 18 49055989 intron variant A/G snv 0.12 0.700 1.000 2 2015 2019
dbSNP: rs17140875
rs17140875 		1 7 19208655 intergenic variant G/A;T snv 3.9E-02 0.700 1.000 2 2019 2019
dbSNP: rs1938679
rs1938679 		1 11 69457328 intergenic variant C/A;G;T snv 0.700 1.000 2 2015 2019
dbSNP: rs2011962
rs2011962 		1 4 81299170 intergenic variant A/C snv 0.40 0.700 1.000 2 2015 2019
dbSNP: rs2062078
rs2062078
GSDMC
1 8 129722215 intron variant G/A;T snv 0.700 1.000 2 2015 2019
dbSNP: rs2224538
rs2224538 		1 20 39923436 intergenic variant T/C snv 0.31 0.700 1.000 2 2014 2019