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: rs2942216
rs2942216 		1 8 23576822 downstream gene variant T/A snv 0.44 0.700 1.000 1 2018 2018
dbSNP: rs34664
rs34664
TNPO1
1 5 72858742 intron variant C/A snv 0.80 0.700 1.000 1 2018 2018
dbSNP: rs4497915
rs4497915
PPP1R21
1 2 48463457 intron variant T/G snv 0.55 0.700 1.000 1 2018 2018
dbSNP: rs4548095
rs4548095
TFR2
1 7 100629042 intron variant C/T snv 0.69 0.700 1.000 1 2018 2018
dbSNP: rs4672497
rs4672497 		5 2 62296430 TF binding site variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs56287436
rs56287436
SLC12A7
2 5 1080019 intron variant G/A snv 0.32 0.700 1.000 1 2018 2018
dbSNP: rs651821
rs651821
APOA5
17 0.851 0.360 11 116791863 5 prime UTR variant C/T snv 0.88 0.89 0.700 1.000 1 2018 2018
dbSNP: rs7158239
rs7158239
FNTB ; MAX ; CHURC1-FNTB
1 14 65053898 intron variant G/A snv 0.50 0.700 1.000 1 2018 2018
dbSNP: rs7191397
rs7191397
RAB40C
1 16 616517 intron variant T/G snv 0.46 0.700 1.000 1 2018 2018
dbSNP: rs7752579
rs7752579
GMPR
1 6 16251828 intron variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs79105258
rs79105258
CUX2
24 12 111280427 intron variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs7933208
rs7933208 		1 11 123068632 intron variant T/C snv 0.13 0.700 1.000 1 2018 2018
dbSNP: rs80305714
rs80305714
PLLP
1 16 57254284 3 prime UTR variant A/T snv 3.0E-02 0.700 1.000 1 2018 2018
dbSNP: rs8070734
rs8070734
ODF4
1 17 8341827 intron variant C/T snv 9.8E-02 0.700 1.000 1 2018 2018
dbSNP: rs8177297
rs8177297
TF
1 3 133772601 intron variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs2413450
rs2413450
TMPRSS6
6 22 37074184 intron variant T/C snv 0.61 0.800 1.000 3 2012 2017
dbSNP: rs13339636
rs13339636
FAM234A
5 16 248589 intron variant A/G snv 3.8E-02 0.800 1.000 2 2013 2017
dbSNP: rs198846
rs198846
H1-6
7 6 26107235 downstream gene variant A/G;T snv 0.800 1.000 2 2012 2017
dbSNP: rs2269906
rs2269906
UBTF ; LOC101926967
1 17 44216969 intron variant A/C snv 0.52 0.800 1.000 2 2012 2017
dbSNP: rs2608604
rs2608604
PIEZO1
1 16 88783013 intron variant A/G;T snv 0.800 1.000 2 2012 2017
dbSNP: rs3218097
rs3218097
CCND3
5 6 41937537 intron variant G/A;T snv 0.800 1.000 2 2012 2017
dbSNP: rs4737009
rs4737009
ANK1
3 1.000 0.080 8 41772887 intron variant G/A snv 0.33 0.800 1.000 2 2012 2017
dbSNP: rs551118
rs551118
LOC107984842
2 16 88789676 upstream gene variant C/G;T snv 0.700 1.000 2 2016 2017
dbSNP: rs671
rs671
ALDH2
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.700 1.000 2 2010 2017
dbSNP: rs7551442
rs7551442
ATP2B4
1 1 203685993 intron variant A/C;G;T snv 0.800 1.000 2 2012 2017