Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519971
SPOP ; LOC107984999
1.000 0.080 17 49619326 missense variant T/C;G snv 1
rs1057519972
SPOP ; LOC107984999
0.882 0.080 17 49619327 missense variant A/T snv 1
rs1057519975
TP53
0.649 0.480 17 7675209 missense variant A/C;G;T snv 13
rs1057519977
TP53
0.763 0.360 17 7675189 missense variant G/C snv 13
rs1057519978
TP53
0.763 0.360 17 7675191 missense variant A/C;G;T snv 12
rs1057519999
TP53
0.763 0.160 17 7674247 missense variant T/C;G snv 12
rs1057520005
TP53
0.742 0.360 17 7673800 missense variant C/A;G snv 11
rs1057520006
TP53
0.752 0.240 17 7673799 missense variant A/C;G;T snv 12
rs1057520009
XPO1
0.790 0.200 2 61492337 missense variant C/T snv 4.4E-06 5
rs1057520010
XPO1
0.882 0.200 2 61492336 missense variant T/A;G snv 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
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 42
rs121909224
PTEN
0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 35
rs121909229
PTEN
0.683 0.400 10 87933148 missense variant G/A;C;T snv 23
rs121912580
SMAD4
0.807 0.280 18 51067036 missense variant G/A;C;T snv 7
rs121912651
TP53
0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 37
rs121912656
TP53
0.662 0.560 17 7674229 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 20
rs121912666
TP53
0.645 0.360 17 7674872 missense variant T/C;G snv 8.0E-06 24
rs121913228
CTNNB1
0.742 0.200 3 41224621 missense variant T/C;G snv 11
rs121913233
HRAS ; LRRC56
0.627 0.520 11 533874 missense variant T/A;C;G snv 20
rs121913272
PIK3CA
0.752 0.400 3 179210192 missense variant T/C;G snv 11
rs121913273
PIK3CA
0.605 0.440 3 179218294 missense variant G/A;C snv 21
rs121913274
PIK3CA
0.645 0.320 3 179218304 missense variant A/C;G;T snv 28
rs121913275
PIK3CA
0.672 0.320 3 179218305 missense variant G/A;C;T snv 4.0E-06 25