rs121908594

Orientation

plus

Stabilized

plus

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

Make rs121908594(C;C)

Reference

GRCh38 38.1/141

Chromosome

15

Position

66435104

Gene

MAP2K1

is a	snp
is	mentioned by
dbSNP	rs121908594
dbSNP (classic)	rs121908594
ClinGen	rs121908594
ebi	rs121908594
HLI	rs121908594
Exac	rs121908594
Gnomad	rs121908594
Varsome	rs121908594
LitVar	rs121908594
Map	rs121908594
PheGenI	rs121908594
Biobank	rs121908594
1000 genomes	rs121908594
hgdp	rs121908594
ensembl	rs121908594
geneview	rs121908594
scholar	rs121908594
google	rs121908594
pharmgkb	rs121908594
gwascentral	rs121908594
openSNP	rs121908594
23andMe	rs121908594
SNPshot	rs121908594
SNPdbe	rs121908594
MSV3d	rs121908594
GWAS Ctlg	rs121908594

Max Magnitude

7

aka c.158T>C (p.Phe53Ser)

OMIM	176872
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121908594(C;C)
Alt	rs121908594(C;C)
Reference	Rs121908594(T;T)
Significance	Pathogenic
Disease	Cardiofaciocutaneous syndrome 3 not provided
Variation	info
Gene	MAP2K1
CLNDBN	Cardiofaciocutaneous syndrome 3 not provided
Reversed	0
HGVS	NC_000015.9:g.66727442T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014278.26, RCV000158002.2,