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rs267607230

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267607230(A;A)
Make rs267607230(A;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position4110576
GeneMAP2K2
is asnp
is mentioned by
dbSNPrs267607230
ebirs267607230
HLIrs267607230
Exacrs267607230
Varsomers267607230
Maprs267607230
PheGenIrs267607230
hapmaprs267607230
1000 genomesrs267607230
hgdprs267607230
ensemblrs267607230
gopubmedrs267607230
geneviewrs267607230
scholarrs267607230
googlers267607230
pharmgkbrs267607230
gwascentralrs267607230
openSNPrs267607230
23andMers267607230
23andMe allrs267607230
SNP Nexus

SNPshotrs267607230
SNPdbers267607230
MSV3drs267607230
GWAS Ctlgrs267607230
Max Magnitude0
ClinVar
Risk rs267607230(A,G,T;A,G,T)
Alt rs267607230(A,G,T;A,G,T)
Reference rs267607230(C;C)
Significance Pathogenic
Disease not specified Cardiofaciocutaneous syndrome 4 not provided Cardiofaciocutaneous syndrome
Variation info
Gene MAP2K2
CLNDBN not specified Cardiofaciocutaneous syndrome 4 not provided Cardiofaciocutaneous syndrome
Reversed 1
HGVS NC_000019.9:g.4110574G>C; NC_000019.9:g.4110574G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000154387.1, RCV000008764.4, RCV000158021.1, RCV000208770.1,