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rs397516789

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397516789(C;T)
Make rs397516789(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position66435070
GeneMAP2K1
is asnp
is mentioned by
dbSNPrs397516789
ebirs397516789
HLIrs397516789
Exacrs397516789
Varsomers397516789
Maprs397516789
PheGenIrs397516789
hapmaprs397516789
1000 genomesrs397516789
hgdprs397516789
ensemblrs397516789
gopubmedrs397516789
geneviewrs397516789
scholarrs397516789
googlers397516789
pharmgkbrs397516789
gwascentralrs397516789
openSNPrs397516789
23andMers397516789
23andMe allrs397516789
SNP Nexus

SNPshotrs397516789
SNPdbers397516789
MSV3drs397516789
GWAS Ctlgrs397516789
Max Magnitude0
ClinVar
Risk rs397516789(T;T)
Alt rs397516789(T;T)
Reference rs397516789(C;C)
Significance Probable-Pathogenic
Disease Cardiofaciocutaneous syndrome
Variation info
Gene MAP2K1
CLNDBN Cardiofaciocutaneous syndrome
Reversed 0
HGVS NC_000015.9:g.66727408C>T
CLNSRC ClinVar
CLNACC RCV000037590.3,