Disease: Deformity
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs1801394
FASTKD3 ; MTRR
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 101
rs2236225
MTHFD1
0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 52
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv 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
rs77543610
FGFR2
0.667 0.560 10 121520160 missense variant G/C snv 28
rs1039659576
MTR
0.689 0.520 1 236803473 missense variant A/G snv 21
rs397514606
AKT3
0.763 0.320 1 243695714 missense variant C/T snv 14
rs1359880314
SLC19A1
0.763 0.320 21 45534541 synonymous variant C/T snv 1.6E-05 2.8E-05 12
rs786201044
PTEN
0.827 0.200 10 87933165 missense variant T/C snv 8
rs7650466
EPHA3
0.851 0.200 3 89481208 3 prime UTR variant C/T snv 0.23 7
rs4954218
MAP3K19
0.925 0.080 2 135045855 intron variant G/T snv 0.83 5
rs587777108
ATL3 ; LOC107984336
0.925 0.080 11 63646550 missense variant T/C snv 5
rs104894232
HYLS1 ; PUS3
0.925 0.160 11 125900000 missense variant A/G snv 1.1E-03 1.0E-03 4
rs587777570
KIF5C
1.000 2 148947018 missense variant G/A snv 4
rs1052108705
TCF19 ; POU5F1
6 31165217 missense variant C/T snv 4.1E-06 2.1E-05 3
rs121918214
FTO
1.000 0.200 16 53873837 missense variant G/A snv 4.0E-06 7.0E-06 3
rs745616565
FTO
1.000 0.200 16 53873855 missense variant G/A snv 1.6E-05 2.1E-05 3
rs768746587
TCF19 ; POU5F1
6 31165136 missense variant C/T snv 8.4E-06 3
rs781028867
FTO
1.000 0.200 16 53873846 missense variant C/A;T snv 4.0E-06 3
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