Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1052108705
TCF19 ; POU5F1
6 31165217 missense variant C/T snv 4.1E-06 2.1E-05 3
rs768746587
TCF19 ; POU5F1
6 31165136 missense variant C/T snv 8.4E-06 3
rs1206736425
FCGR3B
1 161626229 missense variant T/C snv 2
rs1234344050
COL3A1 ; LOC105373791
2 188984825 missense variant C/G snv 4.0E-06 2
rs1387329667
NOTCH1
9 136500595 missense variant G/A snv 2
rs387906617
CREB1
2 207567506 missense variant A/G snv 2
rs756434709
NOTCH1
9 136514670 missense variant C/T snv 2.0E-05 7.0E-06 2
rs764120087
EP300
22 41117439 missense variant G/A snv 8.0E-06 2
rs12329305
OSR1
2 19353152 synonymous variant C/A;T snv 1.6E-04; 5.5E-02 1
rs142322800
FCGR3A
1 161548502 missense variant T/C snv 1.5E-04 5.6E-05 1
rs504849
WNT5A
3 55488911 intron variant T/C;G snv 1
rs524153
WNT5A
3 55491957 upstream gene variant T/A;G snv 1
rs757956956
GPI
19 34377533 missense variant A/G snv 4.0E-06 1
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs1695
GSTP1
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135
rs671
ALDH2
0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 116
rs1801394
FASTKD3 ; MTRR
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 101
rs1051740
EPHX1
0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 56
rs121913499
IDH1
0.605 0.520 2 208248389 missense variant G/A;C;T snv 51
rs2236225
MTHFD1
0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 52
rs775144154
SLC19A1
0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 38
rs368087026
SLC19A1
0.637 0.520 21 45530890 missense variant G/A snv 33