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: rs12329305
rs12329305
OSR1
1 2 19353152 synonymous variant C/A;T snv 1.6E-04; 5.5E-02 0.010 1.000 1 2014 2014
dbSNP: rs142322800
rs142322800
FCGR3A
1 1 161548502 missense variant T/C snv 1.5E-04 5.6E-05 0.010 1.000 1 2018 2018
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: rs757956956
rs757956956
GPI
1 19 34377533 missense variant A/G snv 4.0E-06 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: rs1234344050
rs1234344050
COL3A1 ; LOC105373791
2 2 188984825 missense variant C/G snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs137854438
rs137854438
FAM83H
2 1.000 0.080 8 143728570 stop gained A/T snv 0.010 1.000 1 2019 2019
dbSNP: rs1387329667
rs1387329667
NOTCH1
2 9 136500595 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs387906617
rs387906617
CREB1
2 2 207567506 missense variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs746147592
rs746147592
SRPX2
2 1.000 0.160 X 100665627 missense variant G/A;C snv 5.5E-06 0.010 1.000 1 2019 2019
dbSNP: rs756434709
rs756434709
NOTCH1
2 9 136514670 missense variant C/T snv 2.0E-05 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs764120087
rs764120087
EP300
2 22 41117439 missense variant G/A snv 8.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs769269532
rs769269532
SOX9 ; SOX9-AS1
2 1.000 0.040 17 72124262 missense variant A/G snv 2.4E-05 1.4E-05 0.010 < 0.001 1 2019 2019
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: rs1052108705
rs1052108705
POU5F1 ; TCF19
3 6 31165217 missense variant C/T snv 4.1E-06 2.1E-05 0.010 1.000 1 2019 2019
dbSNP: rs1057517786
rs1057517786
PDCD10
3 0.925 0.400 3 167704889 stop gained G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs121909497
rs121909497
MMP13
3 0.925 0.080 11 102955390 missense variant A/G snv 0.010 1.000 1 2005 2005
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: rs201968272
rs201968272
DDX11
3 0.925 0.160 12 31089147 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs587777186
rs587777186
PIGN
3 0.925 18 62146023 missense variant A/G;T snv 0.010 1.000 1 2014 2014
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: rs768746587
rs768746587
POU5F1 ; TCF19
3 6 31165136 missense variant C/T snv 8.4E-06 0.010 1.000 1 2019 2019
dbSNP: rs774753616
rs774753616
PIGT ; LOC107985405
3 1.000 20 45419351 missense variant G/A snv 1.2E-05 1.4E-05 0.010 1.000 1 2018 2018
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