Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519883
CDKN2A
0.742 0.280 9 21971120 missense variant C/G;T snv 11
rs34968276
CDKN2A
0.776 0.240 9 21971110 stop gained G/A;C;T snv 9
rs1057519881
CDKN2A
0.776 0.240 9 21971111 missense variant T/C snv 8
rs121913385
CDKN2A
0.763 0.240 9 21971112 missense variant G/A;C snv 8
rs1057519882
CDKN2A
0.807 0.200 9 21974678 missense variant C/A snv 7
rs121913400
CTNNB1
0.683 0.360 3 41224610 missense variant C/A;G;T snv 17
rs1057519886
CTNNB1
0.752 0.240 3 41224609 missense variant T/A;C;G snv 11
rs121913412
CTNNB1
0.724 0.280 3 41224633 missense variant A/C;G;T snv 10
rs121913413
CTNNB1
0.763 0.240 3 41224634 missense variant C/A;T snv 9
rs876658923
EPM2AIP1 ; MLH1
1.000 0.120 3 36993593 frameshift variant TGAACCG/- delins 1
rs11554273
GNAS
0.689 0.240 20 58909365 missense variant C/A;G;T snv 4.0E-06 17
rs121913495
GNAS
0.672 0.400 20 58909366 missense variant G/A;T snv 15
rs104894230
HRAS ; LRRC56
0.564 0.600 11 534288 missense variant C/A;G;T snv 36
rs121913233
HRAS ; LRRC56
0.627 0.520 11 533874 missense variant T/A;C;G snv 20
rs121913529
KRAS
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 19
rs17851045
KRAS
0.672 0.400 12 25227341 missense variant T/A;G snv 4.0E-06 15
rs1800562
LOC108783645 ; HFE
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 9
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 8
rs104894229
LRRC56 ; HRAS
0.564 0.600 11 534289 missense variant C/A;G;T snv 52
rs104894228
LRRC56 ; HRAS
0.605 0.560 11 534286 missense variant C/A;G;T snv 30
rs104894226
LRRC56 ; HRAS
0.658 0.560 11 534285 missense variant C/A;G;T snv 23
rs28933406
LRRC56 ; HRAS
0.667 0.480 11 533875 missense variant G/C;T snv 17
rs121434498
MAP2K2
0.807 0.280 19 4117553 missense variant A/C;G;T snv 6
rs1057519910
MAP2K2
0.851 0.160 19 4117551 missense variant A/C;T snv 4
rs1057519912
MED12
0.776 0.200 X 71129408 missense variant C/G;T snv 5