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rs397516792

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397516792(C;T)
Make rs397516792(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position66436825
GeneMAP2K1
is asnp
is mentioned by
dbSNPrs397516792
ebirs397516792
HLIrs397516792
Exacrs397516792
Varsomers397516792
Maprs397516792
PheGenIrs397516792
hapmaprs397516792
1000 genomesrs397516792
hgdprs397516792
ensemblrs397516792
gopubmedrs397516792
geneviewrs397516792
scholarrs397516792
googlers397516792
pharmgkbrs397516792
gwascentralrs397516792
openSNPrs397516792
23andMers397516792
23andMe allrs397516792
SNP Nexus

SNPshotrs397516792
SNPdbers397516792
MSV3drs397516792
GWAS Ctlgrs397516792
Max Magnitude0
ClinVar
Risk rs397516792(T;T)
Alt rs397516792(T;T)
Reference rs397516792(C;C)
Significance Probable-Pathogenic
Disease Cardiofaciocutaneous syndrome
Variation info
Gene MAP2K1
CLNDBN Cardiofaciocutaneous syndrome
Reversed 0
HGVS NC_000015.9:g.66729163C>T
CLNSRC ClinVar
CLNACC RCV000037595.2,