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rs121908595

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 7 Rasopathy; Cardio-facio-cutaneous syndrome
Make rs121908595(G;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position66436843
GeneMAP2K1
is asnp
is mentioned by
dbSNPrs121908595
dbSNP (classic)rs121908595
ClinGenrs121908595
ebirs121908595
HLIrs121908595
Exacrs121908595
Gnomadrs121908595
Varsomers121908595
LitVarrs121908595
Maprs121908595
PheGenIrs121908595
Biobankrs121908595
1000 genomesrs121908595
hgdprs121908595
ensemblrs121908595
geneviewrs121908595
scholarrs121908595
googlers121908595
pharmgkbrs121908595
gwascentralrs121908595
openSNPrs121908595
23andMers121908595
SNPshotrs121908595
SNPdbers121908595
MSV3drs121908595
GWAS Ctlgrs121908595
Max Magnitude7

aka c.389A>G (p.Tyr130Cys)

OMIM176872
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121908595(G;G)
Alt rs121908595(G;G)
Reference Rs121908595(A;A)
Significance Pathogenic
Disease Cardiofaciocutaneous syndrome 3 not provided Cardio-facio-cutaneous syndrome
Variation info
Gene MAP2K1
CLNDBN Cardiofaciocutaneous syndrome 3 not provided Cardio-facio-cutaneous syndrome
Reversed 0
HGVS NC_000015.9:g.66729181A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000043672.28, RCV000207506.3, RCV000208757.1,