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: rs121913495
rs121913495
GNAS
0.672 0.400 20 58909366 missense variant G/A;T snv
CUI: C0242292
Disease: McCune-Albright Syndrome
McCune-Albright Syndrome 		0.850 1.000 2 1991 2018
dbSNP: rs121913495
rs121913495
GNAS
0.672 0.400 20 58909366 missense variant G/A;T snv
CUI: C1857451
Disease: Acth-Independent Macronodular Adrenal Hyperplasia
Acth-Independent Macronodular Adrenal Hyperplasia 		0.800 1.000 0 2003 2003
dbSNP: rs121913495
rs121913495
GNAS
0.672 0.400 20 58909366 missense variant G/A;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.730 0.800 2 2010 2014
dbSNP: rs121913495
rs121913495
GNAS
0.672 0.400 20 58909366 missense variant G/A;T snv
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas 		0.700 1.000 1 2016 2016
dbSNP: rs121913495
rs121913495
GNAS
0.672 0.400 20 58909366 missense variant G/A;T snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs121913495
rs121913495
GNAS
0.672 0.400 20 58909366 missense variant G/A;T snv
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs121913495
rs121913495
GNAS
0.672 0.400 20 58909366 missense variant G/A;T snv
CUI: C0007873
Disease: Uterine Cervical Neoplasm
Uterine Cervical Neoplasm 		0.700 1.000 1 2016 2016
dbSNP: rs121913495
rs121913495
GNAS
0.672 0.400 20 58909366 missense variant G/A;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs121913495
rs121913495
GNAS
0.672 0.400 20 58909366 missense variant G/A;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: rs121913495
rs121913495
GNAS
0.672 0.400 20 58909366 missense variant G/A;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs121913495
rs121913495
GNAS
0.672 0.400 20 58909366 missense variant G/A;T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs121913495
rs121913495
GNAS
0.672 0.400 20 58909366 missense variant G/A;T snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs121913495
rs121913495
GNAS
0.672 0.400 20 58909366 missense variant G/A;T snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 1.000 1 2016 2016
dbSNP: rs121913495
rs121913495
GNAS
0.672 0.400 20 58909366 missense variant G/A;T snv
CUI: C0206724
Disease: Sex Cord-Stromal Tumor
Sex Cord-Stromal Tumor 		0.700 0
dbSNP: rs121913495
rs121913495
GNAS
0.672 0.400 20 58909366 missense variant G/A;T snv
CUI: C4540135
Disease: PITUITARY ADENOMA 3, MULTIPLE TYPES
PITUITARY ADENOMA 3, MULTIPLE TYPES 		0.700 0