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rs267606716

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267606716(C;G)
Make rs267606716(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position2884110
GeneCDKN1C
is asnp
is mentioned by
dbSNPrs267606716
ebirs267606716
HLIrs267606716
Exacrs267606716
Varsomers267606716
Maprs267606716
PheGenIrs267606716
hapmaprs267606716
1000 genomesrs267606716
hgdprs267606716
ensemblrs267606716
gopubmedrs267606716
geneviewrs267606716
scholarrs267606716
googlers267606716
pharmgkbrs267606716
gwascentralrs267606716
openSNPrs267606716
23andMers267606716
23andMe allrs267606716
SNP Nexus

SNPshotrs267606716
SNPdbers267606716
MSV3drs267606716
GWAS Ctlgrs267606716
Max Magnitude0
ClinVar
Risk rs267606716(A,G;A,G)
Alt rs267606716(A,G;A,G)
Reference rs267606716(C;C)
Significance Pathogenic
Disease Beckwith-Wiedemann syndrome
Variation info
Gene CDKN1C
CLNDBN Beckwith-Wiedemann syndrome
Reversed 1
HGVS NC_000011.9:g.2905340G>C; NC_000011.9:g.2905340G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009291.2, RCV000009292.2,