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rs121908594

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121908594(C;C)
Make rs121908594(C;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position66435104
GeneMAP2K1
is asnp
is mentioned by
dbSNPrs121908594
ebirs121908594
HLIrs121908594
Exacrs121908594
Varsomers121908594
Maprs121908594
PheGenIrs121908594
hapmaprs121908594
1000 genomesrs121908594
hgdprs121908594
ensemblrs121908594
gopubmedrs121908594
geneviewrs121908594
scholarrs121908594
googlers121908594
pharmgkbrs121908594
gwascentralrs121908594
openSNPrs121908594
23andMers121908594
23andMe allrs121908594
SNP Nexus

SNPshotrs121908594
SNPdbers121908594
MSV3drs121908594
GWAS Ctlgrs121908594
Max Magnitude0
OMIM176872
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121908594(C;C)
Alt rs121908594(C;C)
Reference rs121908594(T;T)
Significance Pathogenic
Disease Cardiofaciocutaneous syndrome 3 not provided
Variation info
Gene MAP2K1
CLNDBN Cardiofaciocutaneous syndrome 3 not provided
Reversed 0
HGVS NC_000015.9:g.66727442T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000014278.26, RCV000158002.1,