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: rs9939609
rs9939609
FTO
98 0.559 0.720 16 53786615 intron variant T/A snv 0.41 0.010 1.000 1 2012 2012
dbSNP: rs9426
rs9426
CD320
1 19 8302274 3 prime UTR variant C/T snv 5.5E-02 0.12 0.010 1.000 1 2010 2010
dbSNP: rs9282861
rs9282861
SULT1A1
31 0.658 0.440 16 28606193 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs912942180
rs912942180
TUBGCP2
2 1.000 0.040 10 133297344 missense variant G/A snv 2.1E-05 0.010 1.000 1 2010 2010
dbSNP: rs906049409
rs906049409
GLDC
1 9 6550898 missense variant C/T snv 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs8589
rs8589
MMUT
1 6 49435569 missense variant T/C snv 0.56 0.59 0.010 < 0.001 1 2003 2003
dbSNP: rs8050136
rs8050136
FTO
32 0.716 0.560 16 53782363 intron variant C/A snv 0.40 0.010 1.000 1 2012 2012
dbSNP: rs7946
rs7946
PEMT
6 0.851 0.160 17 17506246 missense variant C/T snv 0.59 0.59 0.010 1.000 1 2014 2014
dbSNP: rs780094
rs780094
GCKR
62 0.658 0.400 2 27518370 intron variant T/C snv 0.67 0.010 1.000 1 2015 2015
dbSNP: rs778976254
rs778976254
DACT1
2 1.000 14 58638335 missense variant C/T snv 6.0E-04 2.1E-05 0.010 1.000 1 2012 2012
dbSNP: rs777919630
rs777919630
CBS
40 0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.020 1.000 2 2001 2003
dbSNP: rs777628969
rs777628969
CALR ; MIR6515
1 19 12940603 missense variant A/C snv 8.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs775144154
rs775144154
SLC19A1
38 0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 0.010 1.000 1 2013 2013
dbSNP: rs771174392
rs771174392
DNMT3A
3 0.925 0.200 2 25235779 missense variant T/C snv 0.010 1.000 1 2012 2012
dbSNP: rs769029092
rs769029092
GOLGA4
2 1.000 0.040 3 37295073 missense variant C/T snv 4.5E-06 0.010 1.000 1 2010 2010
dbSNP: rs76665876
rs76665876
TRIM4
1 7 99892234 missense variant G/A snv 4.5E-03 1.3E-03 0.010 < 0.001 1 2019 2019
dbSNP: rs766422988
rs766422988
AMT
1 3 49417962 stop gained G/A snv 1.6E-05 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs7646
rs7646
MTHFD1L ; MIR12131
1 6 151101614 3 prime UTR variant A/G;T snv 0.22 0.010 1.000 1 2014 2014
dbSNP: rs761123443
rs761123443
VANGL1
2 1.000 1 115663998 missense variant G/A snv 2.4E-05 6.3E-05 0.010 1.000 1 2014 2014
dbSNP: rs755001634
rs755001634
FOLH1
13 0.763 0.280 11 49154384 stop gained G/A snv 1.2E-05 0.010 1.000 1 2010 2010
dbSNP: rs753772659
rs753772659
FOLH1
5 0.851 0.120 11 49185830 missense variant G/A snv 5.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs751839046
rs751839046
MTR
1 1 236859890 missense variant G/A snv 4.0E-06 0.010 < 0.001 1 2003 2003
dbSNP: rs751421713
rs751421713
MTHFD1L
1 6 151013801 missense variant A/G snv 8.0E-06 0.020 1.000 2 2006 2009
dbSNP: rs749455351
rs749455351
PRCP
1 11 82824910 missense variant T/C snv 1.6E-05 0.010 1.000 1 2015 2015
dbSNP: rs749437638
rs749437638
ARVCF ; COMT
14 0.752 0.240 22 19968597 missense variant C/T snv 2.4E-05 1.4E-05 0.010 1.000 1 2015 2015