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rs387906800

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906800(A;A)
Make rs387906800(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position4110564
GeneMAP2K2
is asnp
is mentioned by
dbSNPrs387906800
dbSNP (classic)rs387906800
ClinGenrs387906800
ebirs387906800
HLIrs387906800
Exacrs387906800
Gnomadrs387906800
Varsomers387906800
LitVarrs387906800
Maprs387906800
PheGenIrs387906800
Biobankrs387906800
1000 genomesrs387906800
hgdprs387906800
ensemblrs387906800
geneviewrs387906800
scholarrs387906800
googlers387906800
pharmgkbrs387906800
gwascentralrs387906800
openSNPrs387906800
23andMers387906800
SNPshotrs387906800
SNPdbers387906800
MSV3drs387906800
GWAS Ctlgrs387906800
Max Magnitude0
ClinVar
Risk rs387906800(A;A)
Alt rs387906800(A;A)
Reference Rs387906800(G;G)
Significance Pathogenic
Disease Cardiofaciocutaneous syndrome 4 Rasopathy not provided
Variation info
Gene MAP2K2
CLNDBN Cardiofaciocutaneous syndrome 4 Rasopathy not provided
Reversed 1
HGVS NC_000019.9:g.4110562C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023088.4, RCV000149835.1, RCV000413893.1,