rs397516790

Orientation

plus

Stabilized

plus

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

Make rs397516790(C;C)

Reference

GRCh38 38.1/141

Chromosome

15

Position

66435115

Gene

MAP2K1

is a	snp
is	mentioned by
dbSNP	rs397516790
dbSNP (classic)	rs397516790
ClinGen	rs397516790
ebi	rs397516790
HLI	rs397516790
Exac	rs397516790
Gnomad	rs397516790
Varsome	rs397516790
LitVar	rs397516790
Map	rs397516790
PheGenI	rs397516790
Biobank	rs397516790
1000 genomes	rs397516790
hgdp	rs397516790
ensembl	rs397516790
geneview	rs397516790
scholar	rs397516790
google	rs397516790
pharmgkb	rs397516790
gwascentral	rs397516790
openSNP	rs397516790
23andMe	rs397516790
SNPshot	rs397516790
SNPdbe	rs397516790
MSV3d	rs397516790
GWAS Ctlg	rs397516790

Max Magnitude

7

aka c.169A>C (p.Lys57Gln)

ClinVar
Risk	rs397516790(C;C) rs397516790(G;G)
Alt	rs397516790(C;C) rs397516790(G;G)
Reference	Rs397516790(A;A)
Significance	Probable-Pathogenic
Disease	Cardio-facio-cutaneous syndrome Rasopathy Malignant melanoma
Variation	info
Gene	MAP2K1
CLNDBN	Cardio-facio-cutaneous syndrome Rasopathy Malignant melanoma
Reversed	0
HGVS	NC_000015.9:g.66727453A>C; NC_000015.9:g.66727453A>G
CLNSRC	ClinVar
CLNACC	RCV000037591.3, RCV000158014.1, RCV000443354.1,