rs121908595

Orientation

plus

Stabilized

plus

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

Make rs121908595(G;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

66436843

Gene

MAP2K1

is a	snp
is	mentioned by
dbSNP	rs121908595
dbSNP (classic)	rs121908595
ClinGen	rs121908595
ebi	rs121908595
HLI	rs121908595
Exac	rs121908595
Gnomad	rs121908595
Varsome	rs121908595
LitVar	rs121908595
Map	rs121908595
PheGenI	rs121908595
Biobank	rs121908595
1000 genomes	rs121908595
hgdp	rs121908595
ensembl	rs121908595
geneview	rs121908595
scholar	rs121908595
google	rs121908595
pharmgkb	rs121908595
gwascentral	rs121908595
openSNP	rs121908595
23andMe	rs121908595
SNPshot	rs121908595
SNPdbe	rs121908595
MSV3d	rs121908595
GWAS Ctlg	rs121908595

Max Magnitude

7

aka c.389A>G (p.Tyr130Cys)

OMIM	176872
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121908595(G;G)
Alt	rs121908595(G;G)
Reference	Rs121908595(A;A)
Significance	Pathogenic
Disease	Cardiofaciocutaneous syndrome 3 not provided Cardio-facio-cutaneous syndrome
Variation	info
Gene	MAP2K1
CLNDBN	Cardiofaciocutaneous syndrome 3 not provided Cardio-facio-cutaneous syndrome
Reversed	0
HGVS	NC_000015.9:g.66729181A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000043672.28, RCV000207506.3, RCV000208757.1,