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rs786205241

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs786205241(-;GCTCCGGCCCC)
Make rs786205241(GCTCCGGCCCC;GCTCCGGCCCC)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position2884860
GeneCDKN1C, LOC107987413
is asnp
is mentioned by
dbSNPrs786205241
dbSNP (old)rs786205241
ClinGenrs786205241
ebirs786205241
HLIrs786205241
Exacrs786205241
Gnomadrs786205241
Varsomers786205241
Maprs786205241
PheGenIrs786205241
Biobankrs786205241
1000 genomesrs786205241
hgdprs786205241
ensemblrs786205241
gopubmedrs786205241
geneviewrs786205241
scholarrs786205241
googlers786205241
pharmgkbrs786205241
gwascentralrs786205241
openSNPrs786205241
23andMers786205241
23andMe allrs786205241
SNP Nexus

SNPshotrs786205241
SNPdbers786205241
MSV3drs786205241
GWAS Ctlgrs786205241
Max Magnitude0
ClinVar
Risk rs786205241(GCTCCGGCCCC;GCTCCGGCCCC) rs786205241(GGCCCC;GGCCCC)
Alt rs786205241(GCTCCGGCCCC;GCTCCGGCCCC) rs786205241(GGCCCC;GGCCCC)
Reference Rs786205241(-;-)
Significance Pathogenic
Disease Beckwith-Wiedemann syndrome
Variation info
Gene CDKN1C
CLNDBN Beckwith-Wiedemann syndrome
Reversed 1
HGVS NC_000011.9:g.2906090_2906091insGGGGCCGGAGC; NC_000011.9:g.2906091_2906096dupGGGGCC
CLNSRC
CLNACC RCV000172984.1, RCV000232556.2,