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rs121434497

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121434497(G;G)
Make rs121434497(G;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position4117552
GeneMAP2K2
is asnp
is mentioned by
dbSNPrs121434497
ebirs121434497
HLIrs121434497
Exacrs121434497
Varsomers121434497
Maprs121434497
PheGenIrs121434497
hapmaprs121434497
1000 genomesrs121434497
hgdprs121434497
ensemblrs121434497
gopubmedrs121434497
geneviewrs121434497
scholarrs121434497
googlers121434497
pharmgkbrs121434497
gwascentralrs121434497
openSNPrs121434497
23andMers121434497
23andMe allrs121434497
SNP Nexus

SNPshotrs121434497
SNPdbers121434497
MSV3drs121434497
GWAS Ctlgrs121434497
Max Magnitude0
OMIM601263
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434497(G;G)
Alt rs121434497(G;G)
Reference rs121434497(T;T)
Significance Pathogenic
Disease Cardiofaciocutaneous syndrome 4 not provided Cardiofaciocutaneous syndrome
Variation info
Gene MAP2K2
CLNDBN Cardiofaciocutaneous syndrome 4 not provided Cardiofaciocutaneous syndrome
Reversed 1
HGVS NC_000019.9:g.4117550A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000008761.3, RCV000158038.2, RCV000208756.1,