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: rs372670098
rs372670098
CDKN2A
9 21971153 missense variant T/C snv 9.5E-06 2.8E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 12 1998 2015
dbSNP: rs587782792
rs587782792
CDKN2A
9 21971108 missense variant T/G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 10 1998 2014
dbSNP: rs121913381
rs121913381
CDKN2A
9 21971037 missense variant C/A;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 4 1998 2011
dbSNP: rs730881677
rs730881677
CDKN2A
9 21971209 splice acceptor variant C/A;G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 4 2001 2016
dbSNP: rs1060501260
rs1060501260
CDKN2A
9 21971156 missense variant G/A;C snv 4.7E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 3 1996 2011
dbSNP: rs1554656253
rs1554656253
CDKN2A
9 21974696 stop gained G/A;C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 3 1998 2007
dbSNP: rs1554654224
rs1554654224
CDKN2A
9 21971210 splice acceptor variant T/C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2012 2017
dbSNP: rs1057519852
rs1057519852
CDKN2A
9 21971030 stop gained C/T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.700 1.000 1 2014 2014
dbSNP: rs121913381
rs121913381
CDKN2A
9 21971037 missense variant C/A;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.700 1.000 1 2014 2014
dbSNP: rs121913382
rs121913382
CDKN2A
9 21971178 stop gained C/A;T snv 4.6E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.700 1.000 1 2014 2014
dbSNP: rs121913383
rs121913383
CDKN2A
9 21971154 stop gained C/A snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.700 1.000 1 2014 2014
dbSNP: rs121913389
rs121913389
CDKN2A
9 21971029 stop gained C/T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.700 1.000 1 2014 2014
dbSNP: rs1131691188
rs1131691188
CDKN2A
9 21974782 frameshift variant -/C delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1554653976
rs1554653976
CDKN2A
9 21971015 frameshift variant -/GGGC delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1554659198
rs1554659198
CDKN2A ; CDKN2B-AS1
9 21994212 frameshift variant G/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs730881672
rs730881672
CDKN2A
9 21974781 protein altering variant -/GCC delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1057519883
rs1057519883
CDKN2A
0.742 0.280 9 21971120 missense variant C/G;T snv
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		0.700 1.000 1 2016 2016
dbSNP: rs1057519883
rs1057519883
CDKN2A
0.742 0.280 9 21971120 missense variant C/G;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs1057519883
rs1057519883
CDKN2A
0.742 0.280 9 21971120 missense variant C/G;T snv
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016
dbSNP: rs1057519883
rs1057519883
CDKN2A
0.742 0.280 9 21971120 missense variant C/G;T snv
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519883
rs1057519883
CDKN2A
0.742 0.280 9 21971120 missense variant C/G;T snv
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas 		0.700 1.000 1 2016 2016
dbSNP: rs1057519883
rs1057519883
CDKN2A
0.742 0.280 9 21971120 missense variant C/G;T snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519883
rs1057519883
CDKN2A
0.742 0.280 9 21971120 missense variant C/G;T snv
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		0.700 1.000 1 2016 2016
dbSNP: rs1057519883
rs1057519883
CDKN2A
0.742 0.280 9 21971120 missense variant C/G;T snv
CUI: C1336078
Disease: Papillary renal cell carcinoma, sporadic
Papillary renal cell carcinoma, sporadic 		0.700 1.000 1 2016 2016
dbSNP: rs1057519883
rs1057519883
CDKN2A
0.742 0.280 9 21971120 missense variant C/G;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