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: rs2336573
rs2336573
CD320
1 19 8302825 missense variant C/T snv 5.9E-02 0.12 0.010 1.000 1 2010 2010
dbSNP: rs368939818
rs368939818
FOLH1
13 0.763 0.280 11 49156734 missense variant G/A snv 4.0E-05 2.1E-05 0.010 1.000 1 2010 2010
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: 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: rs777628969
rs777628969
CALR ; MIR6515
1 19 12940603 missense variant A/C snv 8.0E-06 0.010 1.000 1 2010 2010
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: 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: rs1801198
rs1801198
TCN2
26 0.677 0.400 22 30615623 missense variant G/A;C snv 5.6E-05; 0.57 0.010 1.000 1 2011 2011
dbSNP: rs2274976
rs2274976
MTHFR
7 0.807 0.320 1 11790870 missense variant C/T snv 5.6E-02 4.2E-02 0.010 < 0.001 1 2011 2011
dbSNP: rs4242182
rs4242182
MSX2
2 5 174729165 missense variant T/A;C;G snv 4.0E-06; 0.88; 1.2E-05 0.010 1.000 1 2011 2011
dbSNP: rs10827337
rs10827337
PARD3
1 10 34202922 intron variant G/A snv 0.20 0.010 1.000 1 2012 2012
dbSNP: rs12218196
rs12218196
PARD3
1 10 34196864 intron variant T/C snv 2.0E-02 0.010 1.000 1 2012 2012
dbSNP: rs1421085
rs1421085
FTO
28 0.752 0.280 16 53767042 intron variant T/C snv 0.31 0.010 1.000 1 2012 2012
dbSNP: rs1476413
rs1476413
MTHFR
10 0.790 0.360 1 11792243 intron variant C/G;T snv 4.0E-06; 0.26 0.23 0.010 1.000 1 2012 2012
dbSNP: rs17187449
rs17187449
KCNB2
1 8 72830736 intron variant G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs2071045
rs2071045
LEP
3 0.925 0.120 7 128252927 intron variant T/C snv 0.18 0.010 1.000 1 2012 2012
dbSNP: rs2496720
rs2496720
PARD3
1 10 34606401 intron variant T/C snv 0.10 0.010 1.000 1 2012 2012
dbSNP: rs3814573
rs3814573
TCF7L2
2 1.000 0.080 10 113138334 intron variant T/C snv 0.71 0.010 1.000 1 2012 2012
dbSNP: rs502396
rs502396
TYMS ; TYMSOS
2 1.000 0.080 18 659236 intron variant C/T snv 0.46 0.010 1.000 1 2012 2012
dbSNP: rs562920966
rs562920966
DACT1
1 14 58645694 missense variant A/T snv 8.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs660339
rs660339
UCP2
24 0.695 0.320 11 73978059 missense variant G/A snv 0.41 0.43 0.010 1.000 1 2012 2012
dbSNP: rs699517
rs699517
TYMS ; ENOSF1
1 18 673016 3 prime UTR variant C/T snv 0.38 0.40 0.010 1.000 1 2012 2012
dbSNP: rs771174392
rs771174392
DNMT3A
3 0.925 0.200 2 25235779 missense variant T/C snv 0.010 1.000 1 2012 2012
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: rs8050136
rs8050136
FTO
32 0.716 0.560 16 53782363 intron variant C/A snv 0.40 0.010 1.000 1 2012 2012