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: rs1057519849
rs1057519849
8 127738386 missense variant C/T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.700 1.000 1 2014 2014
dbSNP: rs1057519850
rs1057519850
8 127738447 missense variant C/T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.700 1.000 1 2014 2014
dbSNP: rs1057519918
rs1057519918
0.851 0.200 8 127738390 missense variant C/T snv
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial
0.700 1.000 1 2016 2016
dbSNP: rs1057519918
rs1057519918
0.851 0.200 8 127738390 missense variant C/T snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1.000 1 2016 2016
dbSNP: rs1057519918
rs1057519918
0.851 0.200 8 127738390 missense variant C/T snv
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma
0.700 1.000 1 2016 2016
dbSNP: rs1057519918
rs1057519918
0.851 0.200 8 127738390 missense variant C/T snv
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO
0.700 1.000 1 2016 2016
dbSNP: rs1057519918
rs1057519918
0.851 0.200 8 127738390 missense variant C/T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.700 1.000 1 2016 2016
dbSNP: rs121918683
rs121918683
1.000 0.160 8 127738519 missense variant A/C snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.700 1.000 1 2014 2014
dbSNP: rs750664148
rs750664148
0.851 0.200 8 127738434 missense variant A/C;G snv
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO
0.700 1.000 1 2016 2016
dbSNP: rs750664148
rs750664148
0.851 0.200 8 127738434 missense variant A/C;G snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.700 1.000 1 2016 2016
dbSNP: rs750664148
rs750664148
0.851 0.200 8 127738434 missense variant A/C;G snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1.000 1 2016 2016
dbSNP: rs750664148
rs750664148
0.851 0.200 8 127738434 missense variant A/C;G snv
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial
0.700 1.000 1 2016 2016
dbSNP: rs750664148
rs750664148
0.851 0.200 8 127738434 missense variant A/C;G snv
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma
0.700 1.000 1 2016 2016
dbSNP: rs756091827
rs756091827
0.851 0.200 8 127738435 missense variant C/G;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.700 1.000 1 2014 2014
dbSNP: rs756091827
rs756091827
0.851 0.200 8 127738435 missense variant C/G;T snv
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial
0.700 1.000 1 2016 2016
dbSNP: rs756091827
rs756091827
0.851 0.200 8 127738435 missense variant C/G;T snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1.000 1 2016 2016
dbSNP: rs756091827
rs756091827
0.851 0.200 8 127738435 missense variant C/G;T snv
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO
0.700 1.000 1 2016 2016
dbSNP: rs756091827
rs756091827
0.851 0.200 8 127738435 missense variant C/G;T snv
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma
0.700 1.000 1 2016 2016
dbSNP: rs756091827
rs756091827
0.851 0.200 8 127738435 missense variant C/G;T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.700 1.000 1 2016 2016
dbSNP: rs775522201
rs775522201
8 127738393 missense variant C/T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.700 1.000 1 2014 2014