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rs730880511

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730880511(G;T)
Make rs730880511(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position4101032
GeneMAP2K2
is asnp
is mentioned by
dbSNPrs730880511
dbSNP (classic)rs730880511
ClinGenrs730880511
ebirs730880511
HLIrs730880511
Exacrs730880511
Gnomadrs730880511
Varsomers730880511
LitVarrs730880511
Maprs730880511
PheGenIrs730880511
Biobankrs730880511
1000 genomesrs730880511
hgdprs730880511
ensemblrs730880511
geneviewrs730880511
scholarrs730880511
googlers730880511
pharmgkbrs730880511
gwascentralrs730880511
openSNPrs730880511
23andMers730880511
SNPshotrs730880511
SNPdbers730880511
MSV3drs730880511
GWAS Ctlgrs730880511
Max Magnitude0
ClinVar
Risk rs730880511(A;A) rs730880511(T;T)
Alt rs730880511(A;A) rs730880511(T;T)
Reference Rs730880511(G;G)
Significance Probable-Pathogenic
Disease not provided Rasopathy
Variation info
Gene MAP2K2
CLNDBN not provided Rasopathy
Reversed 1
HGVS NC_000019.9:g.4101030C>A
CLNSRC
CLNACC RCV000158025.1, RCV000466246.1,