Have questions? Visit https://www.reddit.com/r/SNPedia

rs121434499

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121434499(C;C)
Make rs121434499(C;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position4110559
GeneMAP2K2
is asnp
is mentioned by
dbSNPrs121434499
dbSNP (old)rs121434499
ClinGenrs121434499
ebirs121434499
HLIrs121434499
Exacrs121434499
Gnomadrs121434499
Varsomers121434499
Maprs121434499
PheGenIrs121434499
Biobankrs121434499
1000 genomesrs121434499
hgdprs121434499
ensemblrs121434499
gopubmedrs121434499
geneviewrs121434499
scholarrs121434499
googlers121434499
pharmgkbrs121434499
gwascentralrs121434499
openSNPrs121434499
23andMers121434499
23andMe allrs121434499
SNP Nexus

SNPshotrs121434499
SNPdbers121434499
MSV3drs121434499
GWAS Ctlgrs121434499
Max Magnitude0
OMIM601263
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121434499(C;C)
Alt rs121434499(C;C)
Reference Rs121434499(T;T)
Significance Pathogenic
Disease Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 4 not provided
Variation info
Gene MAP2K2
CLNDBN Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 4 not provided
Reversed 1
HGVS NC_000019.9:g.4110557A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008763.4, RCV000043675.3, RCV000158022.2,