rs121434497

Orientation

minus

Stabilized

minus

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

Make rs121434497(G;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

4117552

Gene

MAP2K2

is a	snp
is	mentioned by
dbSNP	rs121434497
dbSNP (classic)	rs121434497
ClinGen	rs121434497
ebi	rs121434497
HLI	rs121434497
Exac	rs121434497
Gnomad	rs121434497
Varsome	rs121434497
LitVar	rs121434497
Map	rs121434497
PheGenI	rs121434497
Biobank	rs121434497
1000 genomes	rs121434497
hgdp	rs121434497
ensembl	rs121434497
geneview	rs121434497
scholar	rs121434497
google	rs121434497
pharmgkb	rs121434497
gwascentral	rs121434497
openSNP	rs121434497
23andMe	rs121434497
SNPshot	rs121434497
SNPdbe	rs121434497
MSV3d	rs121434497
GWAS Ctlg	rs121434497

Max Magnitude

7

aka c.170T>G (p.Phe57Cys)

OMIM	601263
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121434497(G;G)
Alt	rs121434497(G;G)
Reference	Rs121434497(T;T)
Significance	Pathogenic
Disease	Cardiofaciocutaneous syndrome 4 not provided Cardio-facio-cutaneous syndrome
Variation	info
Gene	MAP2K2
CLNDBN	Cardiofaciocutaneous syndrome 4 not provided Cardio-facio-cutaneous syndrome
Reversed	1
HGVS	NC_000019.9:g.4117550A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008761.3, RCV000158038.2, RCV000208756.1,