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: 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: rs1206736425
rs1206736425
FCGR3B
2 1 161626229 missense variant T/C snv 0.010 1.000 1 2018 2018
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: rs1234344050
rs1234344050
COL3A1 ; LOC105373791
2 2 188984825 missense variant C/G snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1387329667
rs1387329667
NOTCH1
2 9 136500595 missense variant G/A snv 0.010 1.000 1 2015 2015
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: rs387906617
rs387906617
CREB1
2 2 207567506 missense variant A/G snv 0.010 1.000 1 2012 2012
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: 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: rs757956956
rs757956956
GPI
1 19 34377533 missense variant A/G snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs764120087
rs764120087
EP300
2 22 41117439 missense variant G/A snv 8.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs768746587
rs768746587
POU5F1 ; TCF19
3 6 31165136 missense variant C/T snv 8.4E-06 0.010 1.000 1 2019 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 1.000 14 1999 2019
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.070 1.000 7 2004 2019
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2008 2008
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2013 2013
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2012 2012
dbSNP: rs671
rs671
ALDH2
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.010 < 0.001 1 2019 2019
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 1.000 1 2018 2018
dbSNP: rs1051740
rs1051740
EPHX1
56 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2019 2019
dbSNP: rs121913499
rs121913499
IDH1
51 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.010 1.000 1 2013 2013
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: 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 2018 2018
dbSNP: rs368087026
rs368087026
SLC19A1
33 0.637 0.520 21 45530890 missense variant G/A snv 0.010 1.000 1 2018 2018