Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs63750624
MSH2
0.925 0.160 2 47410211 missense variant G/A snv 4
rs63750741
FBXO11 ; MSH6
0.827 0.200 2 47799329 missense variant T/C snv 1.2E-05 4
rs63749993
MSH2
0.882 0.200 2 47476424 missense variant T/G snv 3
rs63750111
FBXO11 ; MSH6
0.882 0.200 2 47800914 stop gained C/A;G snv 3
rs863225281
ALK
0.776 0.200 2 29220829 missense variant G/C;T snv 3
rs121912532
STON1-GTF2A1L ; LHCGR ; GTF2A1L
0.776 0.280 2 48688065 missense variant C/A;G;T snv 1.2E-05 2
rs1801278
IRS1
0.637 0.560 2 226795828 missense variant C/G;T snv 4.0E-06; 5.2E-02 2
rs281864719
ALK
0.763 0.240 2 29220831 missense variant A/C;G;T snv 2
rs863225283
ALK
0.925 0.080 2 29213993 missense variant A/C snv 2
rs878853824
MSH2
2 47412558 stop gained C/T snv 2
rs1057519696
ALK
1.000 0.040 2 29214054 missense variant C/T snv 1
rs1057519697
ALK
0.776 0.120 2 29220830 missense variant A/C snv 1
rs1057519698
ALK
0.827 0.120 2 29222347 missense variant A/G;T snv 1
rs1057519783
ALK
0.851 0.080 2 29220747 missense variant C/T snv 1
rs1057519784
ALK
0.827 0.080 2 29220765 missense variant G/T snv 1
rs1057519785
ALK
1.000 0.040 2 29222404 missense variant A/C snv 1
rs137853090
GALNT3
1.000 2 165761928 missense variant G/A;T snv 2.4E-05; 8.0E-06 1
rs137853091
GALNT3
1.000 2 165758862 missense variant G/T snv 4.0E-06 1
rs267606841
GALNT3
0.882 0.120 2 165749801 missense variant A/C snv 1
rs63751617
MSH2
0.925 0.160 2 47429742 missense variant A/T snv 1
rs863225401
MSH6 ; FBXO11
0.925 0.040 2 47799866 stop gained G/A snv 1
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 45
rs104886003
PIK3CA
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 34
rs121913275
PIK3CA
0.672 0.320 3 179218305 missense variant G/A;C;T snv 4.0E-06 25
rs121913273
PIK3CA
0.605 0.440 3 179218294 missense variant G/A;C snv 21