rs397516793

Orientation

plus

Stabilized

plus

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

Make rs397516793(C;C)

Reference

GRCh38 38.1/141

Chromosome

15

Position

66436842

Gene

MAP2K1

is a	snp
is	mentioned by
dbSNP	rs397516793
dbSNP (classic)	rs397516793
ClinGen	rs397516793
ebi	rs397516793
HLI	rs397516793
Exac	rs397516793
Gnomad	rs397516793
Varsome	rs397516793
LitVar	rs397516793
Map	rs397516793
PheGenI	rs397516793
Biobank	rs397516793
1000 genomes	rs397516793
hgdp	rs397516793
ensembl	rs397516793
geneview	rs397516793
scholar	rs397516793
google	rs397516793
pharmgkb	rs397516793
gwascentral	rs397516793
openSNP	rs397516793
23andMe	rs397516793
SNPshot	rs397516793
SNPdbe	rs397516793
MSV3d	rs397516793
GWAS Ctlg	rs397516793

Max Magnitude

7

aka c.388T>C (p.Tyr130His)

ClinVar
Risk	rs397516793(C;C)
Alt	rs397516793(C;C)
Reference	Rs397516793(T;T)
Significance	Pathogenic
Disease	Cardio-facio-cutaneous syndrome
Variation	info
Gene	MAP2K1
CLNDBN	Cardio-facio-cutaneous syndrome
Reversed	0
HGVS	NC_000015.9:g.66729180T>C
CLNSRC	ClinVar
CLNACC	RCV000037596.2,