rs121434499

Orientation

minus

Stabilized

minus

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

Make rs121434499(C;C)

Reference

GRCh38 38.1/141

Chromosome

19

Position

4110559

Gene

MAP2K2

is a	snp
is	mentioned by
dbSNP	rs121434499
dbSNP (classic)	rs121434499
ClinGen	rs121434499
ebi	rs121434499
HLI	rs121434499
Exac	rs121434499
Gnomad	rs121434499
Varsome	rs121434499
LitVar	rs121434499
Map	rs121434499
PheGenI	rs121434499
Biobank	rs121434499
1000 genomes	rs121434499
hgdp	rs121434499
ensembl	rs121434499
geneview	rs121434499
scholar	rs121434499
google	rs121434499
pharmgkb	rs121434499
gwascentral	rs121434499
openSNP	rs121434499
23andMe	rs121434499
SNPshot	rs121434499
SNPdbe	rs121434499
MSV3d	rs121434499
GWAS Ctlg	rs121434499

Max Magnitude

7

aka c.400T>C (p.Tyr134His)

OMIM	601263
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121434499(C;C)
Alt	rs121434499(C;C)
Reference	Rs121434499(T;T)
Significance	Pathogenic
Disease	Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 4 not provided
Variation	info
Gene	MAP2K2
CLNDBN	Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 4 not provided
Reversed	1
HGVS	NC_000019.9:g.4110557A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008763.4, RCV000043675.3, RCV000158022.2,