rs121434498

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;T)	7	Rasopathy; Cardio-facio-cutaneous syndrome
(T;T)	0	common in clinvar

Make rs121434498(G;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

4117553

Gene

MAP2K2

is a	snp
is	mentioned by
dbSNP	rs121434498
dbSNP (classic)	rs121434498
ClinGen	rs121434498
ebi	rs121434498
HLI	rs121434498
Exac	rs121434498
Gnomad	rs121434498
Varsome	rs121434498
LitVar	rs121434498
Map	rs121434498
PheGenI	rs121434498
Biobank	rs121434498
1000 genomes	rs121434498
hgdp	rs121434498
ensembl	rs121434498
geneview	rs121434498
scholar	rs121434498
google	rs121434498
pharmgkb	rs121434498
gwascentral	rs121434498
openSNP	rs121434498
23andMe	rs121434498
SNPshot	rs121434498
SNPdbe	rs121434498
MSV3d	rs121434498
GWAS Ctlg	rs121434498

Max Magnitude

7

aka c.169T>G (p.Phe57Val)

OMIM	601263
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121434498(A;A) rs121434498(C;C) rs121434498(G;G)
Alt	rs121434498(A;A) rs121434498(C;C) rs121434498(G;G)
Reference	Rs121434498(T;T)
Significance	Pathogenic
Disease	Cardiofaciocutaneous syndrome 4 Pancreatic adenocarcinoma Adenocarcinoma of stomach Malignant melanoma of skin Squamous cell carcinoma of the head and neck not provided not specified
Variation	info
Gene	MAP2K2
CLNDBN	Cardiofaciocutaneous syndrome 4 Pancreatic adenocarcinoma Adenocarcinoma of stomach Malignant melanoma of skin Squamous cell carcinoma of the head and neck not provided not specified
Reversed	1
HGVS	NC_000019.9:g.4117551A>C; NC_000019.9:g.4117551A>G; NC_000019.9:g.4117551A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008762.4, RCV000423711.1, RCV000434377.1, RCV000439181.1, RCV000441583.1, RCV000158037.1, RCV000151011.1,