Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519747
TP53
0.716 0.280 17 7675094 missense variant A/C;G;T snv 17
rs397517201
PIK3CA
0.732 0.240 3 179218307 missense variant A/C;G;T snv 14
rs1057519975
TP53
0.649 0.480 17 7675209 missense variant A/C;G;T snv 13
rs121913412
CTNNB1
0.724 0.280 3 41224633 missense variant A/C;G;T snv 10
rs121918461
PTPN11
0.827 0.240 12 112450362 missense variant A/C;G;T snv 8
rs1057519836
CTNNB1
3 41224630 missense variant A/C;G;T snv 2
rs281864719
ALK
0.763 0.240 2 29220831 missense variant A/C;G;T snv 2
rs121913366
BRAF
0.763 0.400 7 140753345 missense variant A/C;T snv 6
rs121913476
FGFR2
0.851 0.080 10 121498520 missense variant A/C;T snv 5
rs1057519742
GNA11
0.827 0.160 19 3118944 missense variant A/C;T snv 3
rs121913341
BRAF
0.851 0.280 7 140753350 missense variant A/C;T snv 3
rs121913392
CSF1R
5 150054081 stop gained A/C;T snv 1
rs2273535
AURKA
0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 1
rs80357107
BRCA1
1.000 17 43045757 missense variant A/C;T snv 1
rs121913485
FGFR3
0.716 0.400 4 1804372 missense variant A/G snv 8
rs121909222
PTEN
0.742 0.240 10 87933127 missense variant A/G snv 7
rs1057519841
PIK3R1
0.925 0.120 5 68295269 missense variant A/G snv 5
rs121913246
MET
0.827 0.200 7 116783360 missense variant A/G snv 4
rs879253942
TP53
0.677 0.400 17 7673826 missense variant A/G snv 3
rs121913393
CSF1R
5 150054083 missense variant A/G snv 2
rs10993994
MSMB
0.763 0.280 10 46046326 5 prime UTR variant A/G snv 0.54 1
rs121908859
TSHR ; LOC101928462
1.000 0.040 14 81143914 missense variant A/G snv 1
rs12252
IFITM3
0.695 0.240 11 320772 splice region variant A/G snv 0.13 0.13 1
rs137852578
AR
0.827 0.080 X 67723710 missense variant A/G snv 1
rs1801275
IL4R
0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36 1