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
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135
rs1801131
MTHFR
0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 93
rs121913615
MPL
0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 25
rs1039659576
MTR
0.689 0.520 1 236803473 missense variant A/G snv 21
rs762403278
MTHFR
0.851 0.200 1 11796244 missense variant T/C;G snv 1.6E-05; 4.0E-06 4
rs778423815
TP73
0.925 0.120 1 3707661 missense variant C/G snv 4.4E-05 1.4E-05 2
rs121912594
CPS1
0.882 0.160 2 210675762 missense variant A/C snv 7
rs12676
CHDH
0.827 0.240 3 53823776 missense variant A/C;T snv 0.77 5
rs3774207
CRELD1
0.851 0.160 3 9943972 synonymous variant C/T snv 0.27 0.38 4
rs73118372
CRELD1
0.851 0.160 3 9943989 missense variant T/C;G snv 2.6E-02; 6.8E-05 4
rs755981922
CRELD1
0.851 0.160 3 9943440 missense variant G/A snv 8.0E-06 2.1E-05 4
rs9878047
CRELD1
0.851 0.160 3 9943773 intron variant T/C snv 0.38 4
rs749628781
CRELD1
0.882 0.160 3 9934538 missense variant C/T snv 4.0E-06 3
rs28933068
FGFR3
0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 30
rs1323833193
EGF
0.851 0.160 4 109994859 missense variant C/G snv 4.0E-06 4
rs1801394
FASTKD3 ; MTRR
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 101
rs28936670
NKX2-5
0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02 17
rs3733890
BHMT ; DMGDH
0.708 0.480 5 79126136 missense variant G/A snv 0.30 0.28 16
rs1532268
MTRR
0.776 0.280 5 7878066 missense variant C/T snv 0.31 0.32 12
rs104893904
NKX2-5
0.807 0.160 5 173235023 missense variant C/G snv 1.1E-03 7.1E-04 6
rs769233111
NKX2-5
0.882 0.160 5 173235071 missense variant G/A snv 6.7E-05 2.1E-05 3
rs1800562
LOC108783645 ; HFE
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 262
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 226