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rs104894200

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894200(A;A)
Make rs104894200(A;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position2884750
GeneCDKN1C
is asnp
is mentioned by
dbSNPrs104894200
ebirs104894200
HLIrs104894200
Exacrs104894200
Varsomers104894200
Maprs104894200
PheGenIrs104894200
hapmaprs104894200
1000 genomesrs104894200
hgdprs104894200
ensemblrs104894200
gopubmedrs104894200
geneviewrs104894200
scholarrs104894200
googlers104894200
pharmgkbrs104894200
gwascentralrs104894200
openSNPrs104894200
23andMers104894200
23andMe allrs104894200
SNP Nexus

SNPshotrs104894200
SNPdbers104894200
MSV3drs104894200
GWAS Ctlgrs104894200
Max Magnitude0
OMIM600856
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104894200(A;A)
Alt rs104894200(A;A)
Reference rs104894200(C;C)
Significance Pathogenic
Disease Beckwith-Wiedemann syndrome
Variation info
Gene CDKN1C
CLNDBN Beckwith-Wiedemann syndrome
Reversed 1
HGVS NC_000011.9:g.2905980G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009290.2,