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rs121434498

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121434498(G;G)
Make rs121434498(G;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position4117553
GeneMAP2K2
is asnp
is mentioned by
dbSNPrs121434498
ebirs121434498
HLIrs121434498
Exacrs121434498
Varsomers121434498
Maprs121434498
PheGenIrs121434498
hapmaprs121434498
1000 genomesrs121434498
hgdprs121434498
ensemblrs121434498
gopubmedrs121434498
geneviewrs121434498
scholarrs121434498
googlers121434498
pharmgkbrs121434498
gwascentralrs121434498
openSNPrs121434498
23andMers121434498
23andMe allrs121434498
SNP Nexus

SNPshotrs121434498
SNPdbers121434498
MSV3drs121434498
GWAS Ctlgrs121434498
Max Magnitude0
OMIM601263
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121434498(A,C,G;A,C,G)
Alt rs121434498(A,C,G;A,C,G)
Reference rs121434498(T;T)
Significance Pathogenic
Disease Cardiofaciocutaneous syndrome 4 not provided not specified
Variation info
Gene MAP2K2
CLNDBN Cardiofaciocutaneous syndrome 4 not provided not specified
Reversed 1
HGVS NC_000019.9:g.4117551A>C; NC_000019.9:g.4117551A>G; NC_000019.9:g.4117551A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008762.3, RCV000158037.1, RCV000151011.1,