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rs397516793

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397516793(C;C)
Make rs397516793(C;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position66436842
GeneMAP2K1
is asnp
is mentioned by
dbSNPrs397516793
ebirs397516793
HLIrs397516793
Exacrs397516793
Varsomers397516793
Maprs397516793
PheGenIrs397516793
hapmaprs397516793
1000 genomesrs397516793
hgdprs397516793
ensemblrs397516793
gopubmedrs397516793
geneviewrs397516793
scholarrs397516793
googlers397516793
pharmgkbrs397516793
gwascentralrs397516793
openSNPrs397516793
23andMers397516793
23andMe allrs397516793
SNP Nexus

SNPshotrs397516793
SNPdbers397516793
MSV3drs397516793
GWAS Ctlgrs397516793
Max Magnitude0
ClinVar
Risk rs397516793(C;C)
Alt rs397516793(C;C)
Reference rs397516793(T;T)
Significance Pathogenic
Disease Cardiofaciocutaneous syndrome
Variation info
Gene MAP2K1
CLNDBN Cardiofaciocutaneous syndrome
Reversed 0
HGVS NC_000015.9:g.66729180T>C
CLNSRC ClinVar
CLNACC RCV000037596.2,