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: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.060 1.000 6 2009 2019
dbSNP: rs1186689
rs1186689
1 1.000 0.040 1 160053263 intron variant G/T snv 0.49 0.010 1.000 1 2018 2018
dbSNP: rs12037377
rs12037377
2 1.000 0.040 1 246551218 missense variant G/A snv 3.2E-03 1.6E-03 0.010 1.000 1 2018 2018
dbSNP: rs141560292
rs141560292
1 1.000 0.040 1 162154408 missense variant G/A snv 1.6E-05 7.7E-05 0.010 1.000 1 2010 2010
dbSNP: rs1477437491
rs1477437491
2 0.925 0.040 1 162367213 missense variant G/A snv 2.8E-05 0.010 1.000 1 2010 2010
dbSNP: rs1801133
rs1801133
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2018 2018
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2018 2018
dbSNP: rs2745557
rs2745557
6 0.807 0.200 1 186680089 intron variant A/G snv 0.83 0.010 1.000 1 2008 2008
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2013 2013
dbSNP: rs1276388879
rs1276388879
1 1.000 0.040 1 151405647 missense variant A/C;G snv 0.700 0
dbSNP: rs1372713010
rs1372713010
1 1.000 0.040 1 151428041 missense variant G/A snv 0.700 0
dbSNP: rs1418634444
rs1418634444
1 1.000 0.040 1 151408777 missense variant T/C snv 7.0E-06 0.700 0
dbSNP: rs1452048149
rs1452048149
1 1.000 0.040 1 151404828 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs1476293577
rs1476293577
1 1.000 0.040 1 151428188 missense variant G/A;C snv 0.700 0
dbSNP: rs1484207450
rs1484207450
1 1.000 0.040 1 151405155 missense variant A/G snv 7.0E-06 0.700 0
dbSNP: rs1557863430
rs1557863430
1 1.000 0.040 1 151405229 missense variant T/C snv 0.700 0
dbSNP: rs1557863440
rs1557863440
1 1.000 0.040 1 151405233 missense variant T/C snv 0.700 0
dbSNP: rs1557863546
rs1557863546
1 1.000 0.040 1 151405263 missense variant T/A snv 0.700 0
dbSNP: rs1557867853
rs1557867853
1 1.000 0.040 1 151406330 missense variant G/A snv 0.700 0
dbSNP: rs1557870645
rs1557870645
1 1.000 0.040 1 151407271 missense variant C/T snv 0.700 0
dbSNP: rs1557874046
rs1557874046
1 1.000 0.040 1 151408807 missense variant T/G snv 0.700 0
dbSNP: rs1557901347
rs1557901347
1 1.000 0.040 1 151424027 missense variant G/C snv 0.700 0
dbSNP: rs1557902023
rs1557902023
1 1.000 0.040 1 151424154 missense variant G/C snv 0.700 0
dbSNP: rs1557909572
rs1557909572
1 1.000 0.040 1 151427931 missense variant G/C snv 0.700 0
dbSNP: rs1557909821
rs1557909821
1 1.000 0.040 1 151427999 missense variant A/G snv 0.700 0