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: rs1050828
rs1050828
G6PD
15 0.790 0.200 X 154536002 missense variant C/T snv 9.1E-03 3.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs12836771
rs12836771
HTR2C ; MIR1912 ; MIR1264
4 0.882 0.080 X 114650913 intron variant A/G snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs518147
rs518147
HTR2C
7 0.807 0.200 X 114584109 5 prime UTR variant C/A;G snv 0.010 1.000 1 2019 2019
dbSNP: rs738409
rs738409
PNPLA3
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.010 1.000 1 2014 2014
dbSNP: rs1375557127
rs1375557127
HNF4A
2 0.925 0.080 20 44424123 missense variant G/A snv 4.0E-06 0.700 1.000 6 2000 2016
dbSNP: rs1392795567
rs1392795567
HNF4A
2 0.925 0.080 20 44414663 splice donor variant G/A snv 0.700 1.000 4 1977 2013
dbSNP: rs1568724014
rs1568724014
HNF4A ; MIR3646
2 0.925 0.080 20 44407421 stop gained C/T snv 0.700 1.000 4 2000 2013
dbSNP: rs1018185646
rs1018185646
HNF4A
1 1.000 0.040 20 44428455 missense variant T/C snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1385251852
rs1385251852
HNF4A ; MIR3646
2 0.925 0.080 20 44406208 frameshift variant G/- delins 0.700 1.000 1 2013 2013
dbSNP: rs1410713
rs1410713 		1 1.000 0.040 20 3079704 downstream gene variant A/C snv 0.62 0.010 1.000 1 2016 2016
dbSNP: rs2282018
rs2282018
AVP
1 1.000 0.040 20 3084303 intron variant C/T snv 0.60 0.010 1.000 1 2016 2016
dbSNP: rs2770381
rs2770381 		1 1.000 0.040 20 3081340 downstream gene variant A/C snv 0.35 0.010 1.000 1 2016 2016
dbSNP: rs6084264
rs6084264
AVP
1 1.000 0.040 20 3089925 upstream gene variant T/C snv 0.58 0.010 1.000 1 2016 2016
dbSNP: rs369841551
rs369841551
MC4R
3 0.882 0.120 18 60371884 stop gained G/A;T snv 4.0E-06 0.700 1.000 4 1999 2017
dbSNP: rs146488435
rs146488435
KCNH6
5 0.851 0.080 17 63533914 missense variant C/G;T snv 8.0E-06; 6.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs8066560
rs8066560
SREBF1
2 0.925 0.040 17 17824729 intron variant A/G snv 0.64 0.010 < 0.001 1 2014 2014
dbSNP: rs9906827
rs9906827
RPTOR
2 0.925 0.120 17 80691605 intron variant C/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs9939609
rs9939609
FTO
98 0.559 0.720 16 53786615 intron variant T/A snv 0.41 0.020 1.000 2 2008 2018
dbSNP: rs17817449
rs17817449
FTO
21 0.716 0.560 16 53779455 intron variant T/A;G snv 0.010 1.000 1 2018 2018
dbSNP: rs572115942
rs572115942
PHKG2
7 0.925 0.240 16 30756714 missense variant G/A snv 8.0E-05 7.7E-05 0.700 0
dbSNP: rs1320702652
rs1320702652
MFAP1
11 0.752 0.160 15 43824536 missense variant G/A snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs10139403
rs10139403
DLK1
1 1.000 0.040 14 100728224 intron variant A/G snv 0.62 0.010 1.000 1 2016 2016
dbSNP: rs11549465
rs11549465
HIF1A ; HIF1A-AS3
55 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 0.010 1.000 1 2019 2019
dbSNP: rs4644
rs4644
LGALS3
14 0.732 0.320 14 55138217 missense variant C/A;G snv 0.35 0.010 1.000 1 2016 2016
dbSNP: rs8004664
rs8004664
FOXN3
3 0.925 0.080 14 89568628 intron variant G/A;C snv 0.010 < 0.001 1 2018 2018