Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1014971 0.882 0.120 22 38936618 regulatory region variant C/T snv 0.55 2
rs1024611 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 4
rs1046778
AS3MT ; BORCS7-ASMT ; LOC107984265
0.851 0.160 10 102901727 3 prime UTR variant T/C snv 0.30 1
rs1051730
CHRNA3
0.641 0.600 15 78601997 synonymous variant G/A snv 0.27 0.26 11
rs1063192
CDKN2B ; CDKN2B-AS1
0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv 6
rs10775480
LOC105372093 ; SLC14A1
0.882 0.120 18 45737317 intron variant T/C snv 0.61 2
rs10936599
MYNN
0.637 0.600 3 169774313 synonymous variant C/T snv 0.29 0.21 18
rs11191454
LOC107984265 ; BORCS7-ASMT ; AS3MT
0.776 0.160 10 102900247 intron variant A/G snv 7.9E-02 5
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 1
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 22
rs11543198
CLK3
0.882 0.120 15 74619987 missense variant G/A;T snv 0.11 1
rs11614913
HOXC6 ; MIR196A2
0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 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
rs11892031
UGT1A10 ; UGT1A8
0.882 0.120 2 233656637 intron variant A/C;T snv 4
rs121434592
AKT1
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 2
rs121909218
PTEN
0.672 0.360 10 87933145 missense variant G/A snv 14
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 48
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 2
rs121913483
FGFR3
0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 23
rs13181
KLC3 ; ERCC2
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 1
rs1323541164
TSC1
1.000 0.120 9 132921834 missense variant A/C snv 1
rs13278062
LOC389641 ; TNFRSF10A
0.807 0.200 8 23225458 non coding transcript exon variant G/A;C;T snv 1
rs138213197
HOXB13
0.701 0.240 17 48728343 missense variant C/T snv 1.8E-03 1.6E-03 8
rs1476413
MTHFR
0.790 0.360 1 11792243 intron variant C/G;T snv 4.0E-06; 0.26 0.23 1