Source: CURATED

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: rs121913496
rs121913496
0.724 0.440 11 533873 missense variant C/A;G;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.710 1.000 1 2010 2014
dbSNP: rs121913496
rs121913496
0.724 0.440 11 533873 missense variant C/A;G;T snv
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3
0.700 1.000 2 1986 1991
dbSNP: rs121913496
rs121913496
0.724 0.440 11 533873 missense variant C/A;G;T snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1.000 1 2016 2016
dbSNP: rs121913496
rs121913496
0.724 0.440 11 533873 missense variant C/A;G;T snv
Transitional cell carcinoma of bladder
0.700 1.000 1 2016 2016
dbSNP: rs121913496
rs121913496
0.724 0.440 11 533873 missense variant C/A;G;T snv
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin
0.700 1.000 1 2016 2016
dbSNP: rs121913496
rs121913496
0.724 0.440 11 533873 missense variant C/A;G;T snv
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.700 1.000 1 2016 2016
dbSNP: rs121913496
rs121913496
0.724 0.440 11 533873 missense variant C/A;G;T snv
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung
0.700 1.000 1 2016 2016
dbSNP: rs121913496
rs121913496
0.724 0.440 11 533873 missense variant C/A;G;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs121913496
rs121913496
0.724 0.440 11 533873 missense variant C/A;G;T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.700 1.000 1 2016 2016
dbSNP: rs121913496
rs121913496
0.724 0.440 11 533873 missense variant C/A;G;T snv
Squamous cell carcinoma of the head and neck
0.700 1.000 1 2016 2016
dbSNP: rs121913496
rs121913496
0.724 0.440 11 533873 missense variant C/A;G;T snv
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate
0.700 1.000 1 2016 2016