Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 3
rs9642880
CASC11
0.776 0.240 8 127705823 intron variant G/A;T snv 3
rs28931615
FGFR3
0.732 0.240 4 1804426 missense variant C/A;T snv 3
rs217727
MRPL23 ; HOTS ; H19
0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 3
rs786204929
PTEN
0.752 0.200 10 87933144 stop gained G/A;T snv 3
rs1014971 0.882 0.120 22 38936618 regulatory region variant C/T snv 0.55 2
rs8102137 0.882 0.120 19 29805946 regulatory region variant T/C snv 0.24 2
rs121434592
AKT1
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 2
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 2
rs1799864
CCR2
0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 2
rs10775480
LOC105372093 ; SLC14A1
0.882 0.120 18 45737317 intron variant T/C snv 0.61 2
rs2276109
MMP12
0.701 0.440 11 102875061 upstream gene variant T/C snv 9.2E-02 2
rs243865
MMP2
0.600 0.640 16 55477894 intron variant C/T snv 0.19 2
rs760805
RUNX3 ; LOC107984932
0.776 0.240 1 24925432 intron variant A/T snv 0.42 2
rs17674580
SLC14A1 ; LOC105372093
0.882 0.120 18 45729946 5 prime UTR variant C/A;T snv 2
rs798766
TACC3
0.851 0.120 4 1732512 intron variant T/C snv 0.76 2
rs2293607
TERC
0.807 0.200 3 169764547 non coding transcript exon variant T/A;C snv 2
rs2736098
TERT
0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 2
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