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: rs7775698
rs7775698
HBS1L
14 1.000 0.080 6 135097497 intron variant C/T snv 6.9E-02 0.800 1.000 4 2009 2012
dbSNP: rs10168349
rs10168349
PRKCE
4 2 46133768 intron variant G/C snv 0.36 0.700 1.000 3 2016 2019
dbSNP: rs10224210
rs10224210
PRKAG2
9 1.000 0.040 7 151716108 intron variant T/C snv 0.21 0.800 1.000 3 2009 2019
dbSNP: rs1547247
rs1547247
HBS1L
5 6 135069698 intron variant G/A snv 0.22 0.800 1.000 3 2009 2019
dbSNP: rs2075672
rs2075672
TFR2 ; ACTL6B
8 7 100642673 intron variant A/G snv 0.65 0.700 1.000 3 2012 2017
dbSNP: rs6592965
rs6592965
IKZF1
4 7 50360284 intron variant G/A snv 0.47 0.700 1.000 3 2016 2019
dbSNP: rs7385804
rs7385804
TFR2
14 0.851 0.120 7 100638347 intron variant C/A snv 0.65 0.700 1.000 3 2009 2019
dbSNP: rs9349205
rs9349205
CCND3
7 6 41957421 intron variant G/A;C snv 0.700 1.000 3 2016 2019
dbSNP: rs10758656
rs10758656
RCL1
7 9 4852599 intron variant A/G snv 0.19 0.800 1.000 2 2009 2019
dbSNP: rs10758658
rs10758658
RCL1
4 9 4856877 intron variant G/A snv 0.15 0.700 1.000 2 2017 2018
dbSNP: rs10947997
rs10947997
CCND3
4 6 41953503 intron variant G/T snv 0.13 0.800 1.000 2 2009 2016
dbSNP: rs11072567
rs11072567
NRG4
5 15 76006403 intron variant A/G snv 0.43 0.700 1.000 2 2016 2019
dbSNP: rs115986297
rs115986297
GMDS
3 6 2050557 intron variant A/C;G snv 0.700 1.000 2 2016 2019
dbSNP: rs11628273
rs11628273
FNTB ; MAX ; CHURC1-FNTB ; MIR4706
2 14 65043160 intron variant C/T snv 0.57 0.800 1.000 2 2009 2019
dbSNP: rs1175550
rs1175550
SMIM1
5 1 3774964 intron variant A/G snv 0.31 0.700 1.000 2 2016 2019
dbSNP: rs117747069
rs117747069
NPRL3
4 16 120077 intron variant G/C snv 2.5E-02 0.700 1.000 2 2016 2019
dbSNP: rs1256061
rs1256061
ESR2
5 14 64236875 intron variant G/A;T snv 0.700 1.000 2 2016 2019
dbSNP: rs13335629
rs13335629
FAM234A
4 16 260381 intron variant G/A;C snv 1.1E-02 0.700 1.000 2 2013 2017
dbSNP: rs151305716
rs151305716
ZNF217
3 20 53605567 intron variant C/T snv 8.1E-03 0.700 1.000 2 2016 2019
dbSNP: rs1569419
rs1569419
PRDM16
5 1 3080038 intron variant T/C snv 0.73 0.700 1.000 2 2016 2019
dbSNP: rs16929368
rs16929368
CACNA1C
1 12 2414606 intron variant T/A;C snv 0.700 1.000 2 2018 2019
dbSNP: rs17476364
rs17476364
HK1
8 10 69334748 intron variant T/C snv 6.4E-02 0.700 1.000 2 2016 2019
dbSNP: rs17699658
rs17699658
FOXP1
3 3 71207158 intron variant C/T snv 0.17 0.700 1.000 2 2016 2019
dbSNP: rs17758695
rs17758695
BCL2
10 18 63253621 intron variant C/T snv 2.1E-02 0.700 1.000 2 2016 2019
dbSNP: rs2067663
rs2067663
MEF2C ; MEF2C-AS1
3 5 88895818 intron variant C/T snv 0.22 0.700 1.000 2 2016 2019