rs730880517

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs730880517(A;G)

Make rs730880517(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

19

Position

4117541

Gene

MAP2K2

is a	snp
is	mentioned by
dbSNP	rs730880517
dbSNP (classic)	rs730880517
ClinGen	rs730880517
ebi	rs730880517
HLI	rs730880517
Exac	rs730880517
Gnomad	rs730880517
Varsome	rs730880517
LitVar	rs730880517
Map	rs730880517
PheGenI	rs730880517
Biobank	rs730880517
1000 genomes	rs730880517
hgdp	rs730880517
ensembl	rs730880517
geneview	rs730880517
scholar	rs730880517
google	rs730880517
pharmgkb	rs730880517
gwascentral	rs730880517
openSNP	rs730880517
23andMe	rs730880517
SNPshot	rs730880517
SNPdbe	rs730880517
MSV3d	rs730880517
GWAS Ctlg	rs730880517

Max Magnitude

0

ClinVar
Risk	rs730880517(G;G)
Alt	rs730880517(G;G)
Reference	Rs730880517(A;A)
Significance	Pathogenic
Disease	not provided Cardiofaciocutaneous syndrome 1
Variation	info
Gene	MAP2K2
CLNDBN	not provided Cardiofaciocutaneous syndrome 1
Reversed	1
HGVS	NC_000019.9:g.4117539T>C
CLNSRC
CLNACC	RCV000158039.1, RCV000200295.1,