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: rs34968276
rs34968276
CDKN2A
0.776 0.240 9 21971110 stop gained G/A;C;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 8 1999 2017
dbSNP: rs34968276
rs34968276
CDKN2A
0.776 0.240 9 21971110 stop gained G/A;C;T snv
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016
dbSNP: rs34968276
rs34968276
CDKN2A
0.776 0.240 9 21971110 stop gained G/A;C;T snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs34968276
rs34968276
CDKN2A
0.776 0.240 9 21971110 stop gained G/A;C;T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs34968276
rs34968276
CDKN2A
0.776 0.240 9 21971110 stop gained G/A;C;T snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs34968276
rs34968276
CDKN2A
0.776 0.240 9 21971110 stop gained G/A;C;T snv
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		0.700 1.000 1 2016 2016
dbSNP: rs34968276
rs34968276
CDKN2A
0.776 0.240 9 21971110 stop gained G/A;C;T snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.700 1.000 1 2016 2016
dbSNP: rs34968276
rs34968276
CDKN2A
0.776 0.240 9 21971110 stop gained G/A;C;T snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 1.000 1 2016 2016
dbSNP: rs34968276
rs34968276
CDKN2A
0.776 0.240 9 21971110 stop gained G/A;C;T snv
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas 		0.700 1.000 1 2016 2016