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rs730880503

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs730880503(C;T)
Make rs730880503(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position66436809
GeneMAP2K1
is asnp
is mentioned by
dbSNPrs730880503
dbSNP (classic)rs730880503
ClinGenrs730880503
ebirs730880503
HLIrs730880503
Exacrs730880503
Gnomadrs730880503
Varsomers730880503
LitVarrs730880503
Maprs730880503
PheGenIrs730880503
Biobankrs730880503
1000 genomesrs730880503
hgdprs730880503
ensemblrs730880503
geneviewrs730880503
scholarrs730880503
googlers730880503
pharmgkbrs730880503
gwascentralrs730880503
openSNPrs730880503
23andMers730880503
SNPshotrs730880503
SNPdbers730880503
MSV3drs730880503
GWAS Ctlgrs730880503
Max Magnitude0
ClinVar
Risk rs730880503(T;T)
Alt rs730880503(T;T)
Reference Rs730880503(C;C)
Significance Pathogenic
Disease Rasopathy
Variation info
Gene MAP2K1
CLNDBN Rasopathy
Reversed 0
HGVS NC_000015.9:g.66729147C>T
CLNSRC
CLNACC RCV000158007.1,