Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs267601394
rs267601394
EZH2
0.807 0.200 7 148811635 missense variant T/A;G snv
CUI: C0024299
Disease: Lymphoma
Lymphoma 		0.720 1.000 2 2012 2016
dbSNP: rs11540652
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05
CUI: C0024299
Disease: Lymphoma
Lymphoma 		0.720 1.000 0 2013 2017
dbSNP: rs1057519833
rs1057519833
EZH2
0.925 0.120 7 148809375 missense variant G/C snv
CUI: C0024299
Disease: Lymphoma
Lymphoma 		0.710 1.000 1 2012 2012
dbSNP: rs267601395
rs267601395
EZH2
0.925 0.160 7 148811636 missense variant A/G;T snv
CUI: C0024299
Disease: Lymphoma
Lymphoma 		0.700 1.000 1 2012 2012
dbSNP: rs121434629
rs121434629
PMS2
0.763 0.320 7 6005918 missense variant C/A;T snv 1.6E-04; 8.1E-06
CUI: C0024299
Disease: Lymphoma
Lymphoma 		0.700 0
dbSNP: rs121918459
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0024299
Disease: Lymphoma
Lymphoma 		0.700 0
dbSNP: rs267608150
rs267608150
PMS2
0.851 0.320 7 5997388 stop gained AGGGGG/CTTCACAAC;CTTCACACACA;NNNNNNNNNNN delins
CUI: C0024299
Disease: Lymphoma
Lymphoma 		0.700 0
dbSNP: rs555607708
rs555607708
CHEK2
0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03
CUI: C0024299
Disease: Lymphoma
Lymphoma 		0.700 0
dbSNP: rs63750250
rs63750250
PMS2
0.807 0.280 7 5986933 frameshift variant -/T delins 1.6E-05 4.2E-05
CUI: C0024299
Disease: Lymphoma
Lymphoma 		0.700 0
dbSNP: rs869312777
rs869312777
PTEN
0.925 0.120 10 87933245 missense variant C/G snv
CUI: C0024299
Disease: Lymphoma
Lymphoma 		0.700 0