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: rs10937329
rs10937329
LOC107986166
1 3 187995930 downstream gene variant T/A snv 0.27 0.800 1.000 2 2012 2018
dbSNP: rs11123170
rs11123170
PAX8 ; PAX8-AS1
1 2 113221363 intron variant C/G snv 0.35 0.800 1.000 2 2012 2019
dbSNP: rs17730281
rs17730281
WDR72
3 1.000 0.080 15 53615751 missense variant G/A snv 0.26 0.22 0.800 1.000 2 2012 2019
dbSNP: rs10275044
rs10275044
UNCX
1 7 1234209 intron variant A/T snv 0.60 0.800 1.000 1 2012 2012
dbSNP: rs10767873
rs10767873
LOC101928338
2 11 30747131 intergenic variant C/T snv 0.35 0.800 1.000 1 2012 2012
dbSNP: rs11868441
rs11868441
BCAS3
2 17 61161860 intron variant A/G snv 0.62 0.800 1.000 1 2012 2012
dbSNP: rs13069000
rs13069000 		1 3 66748526 regulatory region variant C/G snv 0.15 0.800 1.000 1 2012 2012
dbSNP: rs16853722
rs16853722
MECOM
2 3 169432844 intron variant T/C snv 0.11 0.800 1.000 1 2012 2012
dbSNP: rs1936800
rs1936800 		4 6 127114919 intron variant C/T snv 0.51 0.800 1.000 1 2012 2012
dbSNP: rs2049805
rs2049805
GBAP1
1 1 155225189 intron variant T/A;C snv 0.800 1.000 1 2012 2012
dbSNP: rs2074356
rs2074356
HECTD4
18 0.763 0.280 12 112207597 intron variant G/A snv 3.8E-03 0.800 1.000 1 2012 2012
dbSNP: rs2206271
rs2206271
TFAP2B
3 6 50818295 upstream gene variant T/A snv 0.32 0.800 1.000 1 2012 2012
dbSNP: rs6026584
rs6026584
GNAS
3 0.925 0.040 20 58894018 intron variant T/C snv 0.70 0.800 1.000 1 2012 2012
dbSNP: rs7227483
rs7227483
SLC14A2 ; LOC107985153
1 18 45607165 intron variant A/G;T snv 0.800 1.000 1 2012 2012
dbSNP: rs12509595
rs12509595 		10 1.000 0.080 4 80261400 intergenic variant T/C snv 0.23 0.700 1.000 2 2018 2019
dbSNP: rs1275609
rs1275609
LOC105369844
3 12 75877403 intron variant G/A snv 0.40 0.700 1.000 2 2018 2019
dbSNP: rs17237465
rs17237465
RORA
1 15 60897812 intron variant T/C snv 0.31 0.700 1.000 2 2018 2019
dbSNP: rs3110641
rs3110641
HNF1B ; LOC105371755
1 17 37687414 intron variant G/A snv 0.32 0.700 1.000 2 2018 2019
dbSNP: rs760077
rs760077
MTX1 ; THBS3
8 0.925 0.120 1 155208991 missense variant T/A snv 0.36 0.700 1.000 2 2017 2019
dbSNP: rs9517448
rs9517448 		1 13 98786364 intergenic variant A/C;T snv 0.700 1.000 2 2018 2019
dbSNP: rs10224210
rs10224210
PRKAG2
9 1.000 0.040 7 151716108 intron variant T/C snv 0.21 0.700 1.000 1 2017 2017
dbSNP: rs10423928
rs10423928
GIPR
12 0.807 0.200 19 45679046 intron variant T/A snv 0.19 0.700 1.000 1 2018 2018
dbSNP: rs1047891
rs1047891
CPS1
34 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.700 1.000 1 2019 2019
dbSNP: rs1078442
rs1078442
TFCP2L1
1 2 121231348 intron variant C/A snv 0.39 0.700 1.000 1 2019 2019
dbSNP: rs10821944
rs10821944
ARID5B
3 1.000 0.120 10 62025330 3 prime UTR variant G/T snv 0.66 0.700 1.000 1 2019 2019