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: rs587777186
rs587777186
PIGN
3 0.925 18 62146023 missense variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs587777570
rs587777570
KIF5C
4 1.000 2 148947018 missense variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs756632799
rs756632799
PIGT ; LOC107985405
5 0.882 0.080 20 45416579 stop gained G/T snv 1.6E-05 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1387329667
rs1387329667
NOTCH1
2 9 136500595 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs504849
rs504849
WNT5A
1 3 55488911 intron variant T/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs524153
rs524153
WNT5A
1 3 55491957 upstream gene variant T/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs869025322
rs869025322
PIGY ; PYURF
3 0.925 0.040 4 88521653 missense variant A/G snv 0.010 1.000 1 2015 2015
dbSNP: rs121918214
rs121918214
FTO
3 1.000 0.200 16 53873837 missense variant G/A snv 4.0E-06 7.0E-06 0.020 1.000 2 2016 2016
dbSNP: rs104894232
rs104894232
PUS3 ; HYLS1
4 0.925 0.160 11 125900000 missense variant A/G snv 1.1E-03 1.0E-03 0.010 1.000 1 2016 2016
dbSNP: rs121912974
rs121912974
POR
4 0.882 0.240 7 75983548 missense variant G/C snv 2.4E-04 2.2E-04 0.010 1.000 1 2016 2016
dbSNP: rs121913483
rs121913483
FGFR3
31 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.010 1.000 1 2016 2016
dbSNP: rs201405525
rs201405525
DECR1
3 0.925 0.240 8 90044993 missense variant G/A;C snv 4.5E-04; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs368705607
rs368705607
MIXL1
7 0.882 0.120 1 226225766 missense variant T/C;G snv 2.8E-05; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs745616565
rs745616565
FTO
3 1.000 0.200 16 53873855 missense variant G/A snv 1.6E-05 2.1E-05 0.010 1.000 1 2016 2016
dbSNP: rs781028867
rs781028867
FTO
3 1.000 0.200 16 53873846 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs28933068
rs28933068
FGFR3
30 0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 0.020 1.000 2 2007 2017
dbSNP: rs1234344050
rs1234344050
COL3A1 ; LOC105373791
2 2 188984825 missense variant C/G snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1554442016
rs1554442016
TWIST1
4 0.882 0.080 7 19116972 missense variant T/A;C snv 0.010 1.000 1 2017 2017
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 2017 2017
dbSNP: rs2236225
rs2236225
MTHFD1
52 0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 0.030 1.000 3 2017 2018
dbSNP: rs1039659576
rs1039659576
MTR
21 0.689 0.520 1 236803473 missense variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs1057519320
rs1057519320
FBN1
7 0.807 0.160 15 48444574 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs1057519321
rs1057519321
FBN2
7 0.807 0.160 5 128349391 missense variant C/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1206736425
rs1206736425
FCGR3B
2 1 161626229 missense variant T/C snv 0.010 1.000 1 2018 2018
dbSNP: rs1359880314
rs1359880314
SLC19A1
12 0.763 0.320 21 45534541 synonymous variant C/T snv 1.6E-05 2.8E-05 0.010 1.000 1 2018 2018