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rs730880517

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs730880517(A;G)
Make rs730880517(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position4117541
GeneMAP2K2
is asnp
is mentioned by
dbSNPrs730880517
ebirs730880517
HLIrs730880517
Exacrs730880517
Varsomers730880517
Maprs730880517
PheGenIrs730880517
hapmaprs730880517
1000 genomesrs730880517
hgdprs730880517
ensemblrs730880517
gopubmedrs730880517
geneviewrs730880517
scholarrs730880517
googlers730880517
pharmgkbrs730880517
gwascentralrs730880517
openSNPrs730880517
23andMers730880517
23andMe allrs730880517
SNP Nexus

SNPshotrs730880517
SNPdbers730880517
MSV3drs730880517
GWAS Ctlgrs730880517
Max Magnitude0
ClinVar
Risk rs730880517(G;G)
Alt rs730880517(G;G)
Reference rs730880517(A;A)
Significance Pathogenic
Disease not provided Cardiofaciocutaneous syndrome 1
Variation info
Gene MAP2K2
CLNDBN not provided Cardiofaciocutaneous syndrome 1
Reversed 1
HGVS NC_000019.9:g.4117539T>C
CLNSRC
CLNACC RCV000158039.1, RCV000200295.1,