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: 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: 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: 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: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.700 1.000 1 2016 2016
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