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: rs1047891
rs1047891
CPS1
34 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.700 1.000 3 2016 2019
dbSNP: rs1434282
rs1434282
LINC01221
6 1 199041592 non coding transcript exon variant C/T snv 0.76 0.700 1.000 3 2016 2019
dbSNP: rs6592965
rs6592965
IKZF1
4 7 50360284 intron variant G/A snv 0.47 0.700 1.000 3 2016 2019
dbSNP: rs10160596
rs10160596
EHBP1L1
3 11 65583893 non coding transcript exon variant G/A snv 0.20 0.700 1.000 2 2016 2019
dbSNP: rs1050828
rs1050828
G6PD
15 0.790 0.200 X 154536002 missense variant C/T snv 9.1E-03 3.6E-02 0.700 1.000 2 2013 2017
dbSNP: rs10758656
rs10758656
RCL1
7 9 4852599 intron variant A/G snv 0.19 0.700 1.000 2 2017 2019
dbSNP: rs10849023
rs10849023 		4 12 4223312 intergenic variant C/T snv 0.22 0.700 1.000 2 2012 2017
dbSNP: rs10923397
rs10923397 		2 1 117708521 regulatory region variant C/T snv 0.14 0.700 1.000 2 2016 2019
dbSNP: rs112233623
rs112233623
CCND3
5 6 41957260 intron variant C/T snv 7.0E-03 0.700 1.000 2 2016 2019
dbSNP: rs1134634
rs1134634
CC2D2A
2 4 15601446 3 prime UTR variant G/C;T snv 0.58; 9.4E-06 0.700 1.000 2 2016 2019
dbSNP: rs113809617
rs113809617
NDOR1 ; TMEM203
5 9 137205865 missense variant C/G snv 0.13 0.12 0.700 1.000 2 2016 2019
dbSNP: rs11627485
rs11627485
FNTB ; MAX ; CHURC1-FNTB
5 14 65020976 intron variant T/C snv 0.36 0.700 1.000 2 2016 2019
dbSNP: rs116908763
rs116908763
CTDSPL2
1 15 44427813 5 prime UTR variant C/T snv 2.3E-02 0.700 1.000 2 2016 2019
dbSNP: rs117565673
rs117565673
CBFA2T3
1 16 88977046 5 prime UTR variant T/C snv 3.7E-02 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 2016
dbSNP: rs12127588
rs12127588 		2 1 198626376 intergenic variant G/A;C;T snv 0.700 1.000 2 2010 2017
dbSNP: rs12232375
rs12232375
ZFPM1
2 16 88500003 intron variant G/A;C;T snv 0.700 1.000 2 2016 2019
dbSNP: rs12563213
rs12563213 		2 1 154318779 upstream gene variant G/C snv 0.30 0.700 1.000 2 2016 2019
dbSNP: rs12636078
rs12636078
KAT2B
3 3 20064181 intron variant A/G;T snv 0.700 1.000 2 2016 2019
dbSNP: rs13331259
rs13331259
FAM234A
14 16 249924 intron variant A/G snv 3.0E-02 0.700 1.000 2 2019 2019
dbSNP: rs136211
rs136211
MYH9
2 22 36362502 intron variant A/G snv 0.62 0.700 1.000 2 2016 2019
dbSNP: rs140522
rs140522
ODF3B
11 0.851 0.160 22 50532837 upstream gene variant T/A;C snv 0.700 1.000 2 2016 2019
dbSNP: rs144991697
rs144991697
MIDEAS
1 14 73771327 intron variant G/A snv 1.6E-02 0.700 1.000 2 2016 2019
dbSNP: rs1505307
rs1505307
THRB
7 3 24301839 intron variant T/C snv 0.60 0.700 1.000 2 2017 2018
dbSNP: rs151305716
rs151305716
ZNF217
3 20 53605567 intron variant C/T snv 8.1E-03 0.700 1.000 2 2016 2019