rs267607230

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;C)	7	Likely miscall in DNA chip (microarray) data such as from Ancestry, 23andMe or others; otherwise, Rasopathy, Cardio-facio-cutaneous syndrome
(C;C)	0	common in clinvar

Make rs267607230(A;A)

Reference

GRCh38 38.1/141

Chromosome

19

Position

4110576

Gene

MAP2K2

is a	snp
is	mentioned by
dbSNP	rs267607230
dbSNP (classic)	rs267607230
ClinGen	rs267607230
ebi	rs267607230
HLI	rs267607230
Exac	rs267607230
Gnomad	rs267607230
Varsome	rs267607230
LitVar	rs267607230
Map	rs267607230
PheGenI	rs267607230
Biobank	rs267607230
1000 genomes	rs267607230
hgdp	rs267607230
ensembl	rs267607230
geneview	rs267607230
scholar	rs267607230
google	rs267607230
pharmgkb	rs267607230
gwascentral	rs267607230
openSNP	rs267607230
23andMe	rs267607230
SNPshot	rs267607230
SNPdbe	rs267607230
MSV3d	rs267607230
GWAS Ctlg	rs267607230

Max Magnitude

7

aka c.383C>A (p.Pro128Gln)

ClinVar
Risk	rs267607230(A;A) rs267607230(G;G) rs267607230(T;T)
Alt	rs267607230(A;A) rs267607230(G;G) rs267607230(T;T)
Reference	Rs267607230(C;C)
Significance	Pathogenic
Disease	not specified Cardiofaciocutaneous syndrome 4 not provided Cardio-facio-cutaneous syndrome
Variation	info
Gene	MAP2K2
CLNDBN	not specified Cardiofaciocutaneous syndrome 4 not provided Cardio-facio-cutaneous syndrome
Reversed	1
HGVS	NC_000019.9:g.4110574G>C; NC_000019.9:g.4110574G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000154387.1, RCV000008764.5, RCV000158021.1, RCV000208770.1,