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rs387906399

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs387906399(CT;G)
Make rs387906399(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position2885179
GeneCDKN1C
is asnp
is mentioned by
dbSNPrs387906399
ClinGenrs387906399
ebirs387906399
HLIrs387906399
Exacrs387906399
Varsomers387906399
Maprs387906399
PheGenIrs387906399
hapmaprs387906399
1000 genomesrs387906399
hgdprs387906399
ensemblrs387906399
gopubmedrs387906399
geneviewrs387906399
scholarrs387906399
googlers387906399
pharmgkbrs387906399
gwascentralrs387906399
openSNPrs387906399
23andMers387906399
23andMe allrs387906399
SNP Nexus

SNPshotrs387906399
SNPdbers387906399
MSV3drs387906399
GWAS Ctlgrs387906399
Max Magnitude0
ClinVar
Risk rs387906399(G;G)
Alt rs387906399(G;G)
Reference Rs387906399(CT;CT)
Significance Pathogenic
Disease Beckwith-Wiedemann syndrome
Variation info
Gene CDKN1C
CLNDBN Beckwith-Wiedemann syndrome
Reversed 1
HGVS NC_000011.9:g.2906409_2906410delAGinsC
CLNSRC OMIM Allelic Variant
CLNACC RCV000009289.3,