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: rs111653425
rs111653425
SLC47A1 ; LOC105371578
1 17 19571562 missense variant C/T snv 6.4E-03 6.1E-03 0.700 1.000 1 2019 2019
dbSNP: rs11180732
rs11180732
LOC105369844
2 12 75889574 intron variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs112029703
rs112029703
PTPN12
2 7 77609361 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs113246091
rs113246091
LOC105379013
2 5 68443447 regulatory region variant G/A;T snv 8.7E-02 0.700 1.000 1 2017 2017
dbSNP: rs115151282
rs115151282
HLA-DQA1
1 6 32632634 intron variant C/T snv 0.700 1.000 1 2018 2018
dbSNP: rs11543349
rs11543349
OGFR
2 20 62813587 missense variant G/C;T snv 9.8E-02; 4.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs11554266
rs11554266
GNAS
4 1.000 0.040 20 58903791 splice region variant C/G;T snv 4.0E-06; 2.3E-03 0.700 1.000 1 2018 2018
dbSNP: rs11604462
rs11604462 		2 11 65784177 upstream gene variant G/A snv 0.30 0.700 1.000 1 2017 2017
dbSNP: rs11655024
rs11655024
BCAS3
2 17 61155004 intron variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs11657044
rs11657044
BCAS3
2 17 61372744 intron variant T/C snv 0.69 0.700 1.000 1 2016 2016
dbSNP: rs11666497
rs11666497
SIPA1L3
2 19 37973622 intron variant C/T snv 0.15 0.700 1.000 1 2016 2016
dbSNP: rs11742501
rs11742501 		2 5 151727535 upstream gene variant T/C snv 0.29 0.700 1.000 1 2018 2018
dbSNP: rs11960179
rs11960179
LOC105379011
2 5 68524390 intron variant G/A snv 0.11 0.700 1.000 1 2016 2016
dbSNP: rs12124078
rs12124078
DNAJC16
3 1 15543404 intron variant A/G snv 0.32 0.700 1.000 1 2016 2016
dbSNP: rs12136063
rs12136063
SYPL2
2 1 109471548 intron variant G/A snv 0.60 0.700 1.000 1 2016 2016
dbSNP: rs12144044
rs12144044
RHOC
2 1 112706169 5 prime UTR variant C/A;G snv 0.24 0.700 1.000 1 2017 2017
dbSNP: rs12451586
rs12451586
CDK12
2 17 39477582 intron variant T/A snv 0.61 0.700 1.000 1 2017 2017
dbSNP: rs12458009
rs12458009 		2 18 61683274 intron variant T/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs1275609
rs1275609
LOC105369844
3 12 75877403 intron variant G/A snv 0.40 0.700 1.000 1 2018 2018
dbSNP: rs12826808
rs12826808
RERG
2 12 15170446 intron variant A/T snv 0.28 0.700 1.000 1 2017 2017
dbSNP: rs12845465
rs12845465 		2 X 8944553 intergenic variant T/C snv 1.5E-03 0.700 1.000 1 2018 2018
dbSNP: rs12935539
rs12935539
LOC105371257
2 16 51721080 intergenic variant T/C snv 0.23 0.700 1.000 1 2018 2018
dbSNP: rs12975033
rs12975033
IZUMO1
2 19 48746186 intron variant A/T snv 0.41 0.700 1.000 1 2016 2016
dbSNP: rs1317983
rs1317983
LOC105375069 ; LOC107986598
2 6 43838598 intron variant T/C snv 0.61 0.700 1.000 1 2017 2017
dbSNP: rs13298297
rs13298297
ASTN2
2 9 116501829 intron variant G/A snv 0.21 0.700 1.000 1 2017 2017