rs727504370

Orientation

minus

Stabilized

minus

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

Make rs727504370(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

19

Position

4110558

Gene

MAP2K2

is a	snp
is	mentioned by
dbSNP	rs727504370
dbSNP (classic)	rs727504370
ClinGen	rs727504370
ebi	rs727504370
HLI	rs727504370
Exac	rs727504370
Gnomad	rs727504370
Varsome	rs727504370
LitVar	rs727504370
Map	rs727504370
PheGenI	rs727504370
Biobank	rs727504370
1000 genomes	rs727504370
hgdp	rs727504370
ensembl	rs727504370
geneview	rs727504370
scholar	rs727504370
google	rs727504370
pharmgkb	rs727504370
gwascentral	rs727504370
openSNP	rs727504370
23andMe	rs727504370
SNPshot	rs727504370
SNPdbe	rs727504370
MSV3d	rs727504370
GWAS Ctlg	rs727504370

Max Magnitude

7

aka c.401A>G (p.Tyr134Cys)

ClinVar
Risk	rs727504370(G;G)
Alt	rs727504370(G;G)
Reference	Rs727504370(A;A)
Significance	Pathogenic
Disease	Rasopathy Cardio-facio-cutaneous syndrome not provided
Variation	info
Gene	MAP2K2
CLNDBN	Rasopathy Cardio-facio-cutaneous syndrome not provided
Reversed	1
HGVS	NC_000019.9:g.4110556T>C
CLNSRC
CLNACC	RCV000154507.1, RCV000208747.1, RCV000412815.1,