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: rs6458238
rs6458238
PGC
4 0.882 0.080 6 41749967 intron variant G/A;C snv 0.040 1.000 4 2013 2016
dbSNP: rs10739971
rs10739971
MIRLET7A1 ; MIRLET7F1
5 0.882 0.080 9 94175398 intron variant G/A;C snv 0.020 1.000 2 2014 2014
dbSNP: rs158572
rs158572
ERCC8 ; NDUFAF2
4 0.851 0.120 5 60943616 intron variant G/A snv 0.63 0.020 1.000 2 2015 2017
dbSNP: rs158916
rs158916
NDUFAF2
3 0.882 0.080 5 60949318 intron variant A/G snv 0.15 0.020 1.000 2 2015 2017
dbSNP: rs2301756
rs2301756
PTPN11
4 0.851 0.120 12 112452972 intron variant A/G snv 0.21 0.020 1.000 2 2009 2009
dbSNP: rs9471643
rs9471643
PGC
6 0.882 0.080 6 41751177 intron variant G/C snv 0.19 0.020 1.000 2 2014 2016
dbSNP: rs1002765
rs1002765
CHMP2B ; MIR4795
4 0.851 0.080 3 87227912 intron variant G/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs11536878
rs11536878
TLR4
5 0.827 0.240 9 117709275 intron variant C/A snv 9.5E-02 0.010 < 0.001 1 2014 2014
dbSNP: rs121224
rs121224
MIR365B ; MIR4725
4 0.851 0.080 17 31574981 intron variant G/C snv 0.66 0.010 < 0.001 1 2016 2016
dbSNP: rs12229892
rs12229892
PTPN11
6 0.807 0.240 12 112485589 intron variant G/A snv 1.4E-02 0.010 1.000 1 2013 2013
dbSNP: rs12423190
rs12423190
PTPN11
1 1.000 0.040 12 112471536 intron variant T/C snv 8.7E-02 0.010 1.000 1 2012 2012
dbSNP: rs17276588
rs17276588
HUWE1 ; MIRLET7F2 ; MIR98
4 0.882 0.120 X 53557457 intron variant G/A snv 9.0E-02 4.2E-02 0.010 1.000 1 2014 2014
dbSNP: rs2014486
rs2014486
MUC5B
2 1.000 0.040 11 1237573 intron variant A/G snv 0.52 0.010 1.000 1 2012 2012
dbSNP: rs2094258
rs2094258
ERCC5 ; BIVM-ERCC5
20 0.701 0.280 13 102844409 intron variant C/T snv 0.18 0.010 1.000 1 2018 2018
dbSNP: rs2920283
rs2920283
PSCA ; JRK
2 0.925 0.040 8 142675619 intron variant T/C snv 0.44 0.700 1.000 1 2019 2019
dbSNP: rs326222
rs326222
DDB2
3 0.882 0.080 11 47238117 intron variant T/C snv 0.60 0.58 0.010 1.000 1 2016 2016
dbSNP: rs3781619
rs3781619
DDB2
3 0.882 0.080 11 47233766 intron variant G/A snv 0.26 0.010 1.000 1 2016 2016
dbSNP: rs3789210
rs3789210
PGC
3 0.882 0.080 6 41743584 intron variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs3805246
rs3805246
GAB1
3 0.882 0.120 4 143382955 intron variant G/A snv 0.31 0.010 < 0.001 1 2010 2010
dbSNP: rs629367
rs629367
MIR100HG ; MIRLET7A2
11 0.776 0.200 11 122146306 intron variant C/A snv 0.88 0.010 1.000 1 2014 2014
dbSNP: rs6912200
rs6912200
PGC
3 0.925 0.080 6 41750170 intron variant C/T snv 0.54 0.010 < 0.001 1 2016 2016
dbSNP: rs6939861
rs6939861
TFEB ; MIR10398
3 0.882 0.080 6 41735303 intron variant G/A snv 0.24 0.010 1.000 1 2014 2014
dbSNP: rs760805
rs760805
RUNX3 ; LOC107984932
9 0.776 0.240 1 24925432 intron variant A/T snv 0.42 0.010 1.000 1 2009 2009
dbSNP: rs8111742
rs8111742
SPACA6 ; MIRLET7E ; MIR125A ; MIR99B ; SPACA6P-AS
4 0.851 0.120 19 51692221 intron variant G/A;C snv 0.30 0.010 1.000 1 2016 2016
dbSNP: rs830083
rs830083
DDB2
6 0.807 0.120 11 47232500 intron variant G/A;C;T snv 0.010 1.000 1 2016 2016