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rs797044593

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs797044593(A;G)
Make rs797044593(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position66436759
GeneMAP2K1
is asnp
is mentioned by
dbSNPrs797044593
dbSNP (classic)rs797044593
ClinGenrs797044593
ebirs797044593
HLIrs797044593
Exacrs797044593
Gnomadrs797044593
Varsomers797044593
LitVarrs797044593
Maprs797044593
PheGenIrs797044593
Biobankrs797044593
1000 genomesrs797044593
hgdprs797044593
ensemblrs797044593
geneviewrs797044593
scholarrs797044593
googlers797044593
pharmgkbrs797044593
gwascentralrs797044593
openSNPrs797044593
23andMers797044593
SNPshotrs797044593
SNPdbers797044593
MSV3drs797044593
GWAS Ctlgrs797044593
Max Magnitude0
ClinVar
Risk rs797044593(G;G)
Alt rs797044593(G;G)
Reference Rs797044593(A;A)
Significance Pathogenic
Disease Cardiofaciocutaneous syndrome 3
Variation info
Gene MAP2K1
CLNDBN Cardiofaciocutaneous syndrome 3
Reversed 0
HGVS NC_000015.9:g.66729097A>G
CLNSRC
CLNACC RCV000192194.1,