Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1800562
LOC108783645 ; HFE
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 34
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 31
rs429358
APOE
0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16 29
rs28933068
FGFR3
0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 17
rs61748421
MECP2
0.807 0.200 X 154031326 stop gained G/A;T snv 6
rs28936670
NKX2-5
0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02 6
rs121913615
MPL
0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 5
rs5742905
CBS
0.701 0.360 21 43063074 missense variant A/G snv 4
rs2435357
RET
0.790 0.240 10 43086608 intron variant T/C snv 0.79 3
rs63750264
APP
0.716 0.360 21 25891784 missense variant C/A;G;T snv 2
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 2
rs104893904
NKX2-5
0.807 0.160 5 173235023 missense variant C/G snv 1.1E-03 7.1E-04 2
rs121912594
CPS1
0.882 0.160 2 210675762 missense variant A/C snv 1
rs2236225
MTHFD1
0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 1
rs1801131
MTHFR
0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 1
rs2305764
MYO9B
0.776 0.360 19 17203024 non coding transcript exon variant G/A snv 0.52 0.50 1
rs112735431
RNF213 ; RNF213-AS1
0.683 0.320 17 80385145 missense variant G/A;C snv 2.6E-04; 8.0E-06 1
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 1