Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs146189703
LOC105377552
1.000 0.080 4 175023930 downstream gene variant T/C snv 0.14 2
rs1941023
LOC105369320
11 60508428 downstream gene variant G/A snv 0.50 1
rs11752813
CNPY3-GNMT ; GNMT
6 42960279 upstream gene variant C/G snv 0.41 1
rs7941395 11 67579946 upstream gene variant A/G snv 0.38 1
rs876657934
NKX2-5
5 173233212 splice region variant G/C snv 1
rs879253817
CIT
0.925 0.120 12 119876131 frameshift variant AAAGGATTCC/- delins 4
rs727504412
JAG1
0.925 0.120 20 10645245 frameshift variant ACTG/- delins 3
rs397516908
NKX2-5
5 173233142 frameshift variant CCG/AT delins 1
rs6602178
TRDMT1
10 17138170 3 prime UTR variant A/C snv 0.51 1
rs2850144
CBS
21 43076866 5 prime UTR variant C/G snv 0.88 1
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs4343
ACE
0.742 0.480 17 63488670 synonymous variant G/A snv 0.53 14
rs3832879
FGF23
12 4372733 non coding transcript exon variant -/A;G ins 4.0E-06; 0.12; 4.0E-06; 4.0E-06 0.10 2
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
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135
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
rs76992529
TTR
0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 36
rs1532268
MTRR
0.776 0.280 5 7878066 missense variant C/T snv 0.31 0.32 12
rs57920071
LMNA
0.763 0.320 1 156136984 missense variant C/T snv 4.0E-06 7.0E-06 11
rs58034145
LMNA
0.827 0.160 1 156134830 missense variant A/C snv 10
rs104894073
GATA4
0.827 0.080 8 11750213 missense variant G/A;C;T snv 8
rs121912594
CPS1
0.882 0.160 2 210675762 missense variant A/C snv 7