Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1323833193
EGF
0.851 0.160 4 109994859 missense variant C/G snv 4.0E-06 4
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs1801131
MTHFR
0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 93
rs762403278
MTHFR
0.851 0.200 1 11796244 missense variant T/C;G snv 1.6E-05; 4.0E-06 4
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs373667881
TRIB1
0.827 0.160 8 125431222 missense variant G/A;T snv 1.1E-03 5
rs61748421
MECP2
0.807 0.200 X 154031326 stop gained G/A;T snv 9
rs1457092
MYO9B
0.790 0.320 19 17193427 intron variant C/A snv 0.44 8
rs2305764
MYO9B
0.776 0.360 19 17203024 non coding transcript exon variant G/A snv 0.52 0.50 10
rs28936670
NKX2-5
0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02 17
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
rs12325817
PEMT
0.807 0.320 17 17583205 intron variant C/A;G;T snv 7
rs28933068
FGFR3
0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 30
rs1979277
SHMT1
0.620 0.560 17 18328782 missense variant G/A snv 0.27 0.31 45
rs1331959399
TWIST1
0.925 0.120 7 19117256 synonymous variant T/C snv 2
rs121912594
CPS1
0.882 0.160 2 210675762 missense variant A/C snv 7
rs1800797
IL6 ; IL6-AS1 ; STEAP1B
0.605 0.800 7 22726602 non coding transcript exon variant A/G snv 0.72 43
rs1039659576
MTR
0.689 0.520 1 236803473 missense variant A/G snv 21
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135
rs63750264
APP
0.716 0.360 21 25891784 missense variant C/A;G;T snv 17
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 226
rs1800562
LOC108783645 ; HFE
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 262
rs363504
GRIK1 ; BACH1
0.882 0.160 21 29553607 stop gained A/G;T snv 6.7E-02 3
rs363430
BACH1 ; GRIK1-AS2 ; GRIK1
0.882 0.160 21 29598863 synonymous variant G/A snv 0.18 0.17 3