Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs398652 0.752 0.240 14 56058851 intergenic variant G/A snv 0.24 1
rs1046778
AS3MT ; BORCS7-ASMT ; LOC107984265
0.851 0.160 10 102901727 3 prime UTR variant T/C snv 0.30 1
rs3740393
BORCS7-ASMT ; AS3MT
0.776 0.280 10 102876898 intron variant G/C;T snv 1
rs603965
CCND1
0.732 0.440 11 69648142 splice region variant G/A snv 1
rs2230641
CCNH
0.807 0.240 5 87399457 missense variant A/G;T snv 0.18 0.17 1
rs3731239
CDKN2A
0.763 0.240 9 21974219 intron variant A/G snv 0.26 1
rs11543198
CLK3
0.882 0.120 15 74619987 missense variant G/A;T snv 0.11 1
rs2042329
CWC27
0.882 0.120 5 64771925 intron variant T/C;G snv 1
rs2067079
GAS5 ; SNORA103 ; SNORD80 ; SNORD77 ; SNORD81 ; SNORD44 ; SNORD78 ; SNORD47 ; SNORD79
0.807 0.240 1 173866073 non coding transcript exon variant C/T snv 0.22 0.18 1
rs1695
GSTP1
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 1
rs11614913
HOXC6 ; MIR196A2
0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 1
rs763780
IL17F
0.531 0.720 6 52236941 missense variant T/C snv 6.7E-02 6.6E-02 1
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 1
rs13181
KLC3 ; ERCC2
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 1
rs13278062
LOC389641 ; TNFRSF10A
0.807 0.200 8 23225458 non coding transcript exon variant G/A;C;T snv 1
rs3918242
MMP9
0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14 1
rs1476413
MTHFR
0.790 0.360 1 11792243 intron variant C/G;T snv 4.0E-06; 0.26 0.23 1
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 1
rs7003908
PRKDC
0.716 0.320 8 47858141 intron variant C/A snv 0.66 1
rs2250889
SLC12A5-AS1 ; MMP9
0.667 0.520 20 46013767 missense variant G/C;T snv 0.88; 1.6E-05 1
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 1
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 1
rs118203347
TSC1
1.000 0.120 9 132927208 missense variant T/C snv 7.0E-06 1
rs118203385
TSC1
1.000 0.120 9 132923383 missense variant A/C;G snv 1
rs1323541164
TSC1
1.000 0.120 9 132921834 missense variant A/C snv 1