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rs786205240

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CGGC;CGGC) 0 common in clinvar
Make rs786205240(CGGC;GGG)
Make rs786205240(GGG;GGG)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position2884846
GeneCDKN1C, LOC107987413
is asnp
is mentioned by
dbSNPrs786205240
dbSNP (old)rs786205240
ClinGenrs786205240
ebirs786205240
HLIrs786205240
Exacrs786205240
Gnomadrs786205240
Varsomers786205240
Maprs786205240
PheGenIrs786205240
Biobankrs786205240
1000 genomesrs786205240
hgdprs786205240
ensemblrs786205240
gopubmedrs786205240
geneviewrs786205240
scholarrs786205240
googlers786205240
pharmgkbrs786205240
gwascentralrs786205240
openSNPrs786205240
23andMers786205240
23andMe allrs786205240
SNP Nexus

SNPshotrs786205240
SNPdbers786205240
MSV3drs786205240
GWAS Ctlgrs786205240
Max Magnitude0
ClinVar
Risk rs786205240(GGG;GGG)
Alt rs786205240(GGG;GGG)
Reference Rs786205240(CGGC;CGGC)
Significance Pathogenic
Disease Beckwith-Wiedemann syndrome
Variation info
Gene CDKN1C
CLNDBN Beckwith-Wiedemann syndrome
Reversed 1
HGVS NC_000011.9:g.2906076_2906079delGCCGinsCCC
CLNSRC
CLNACC RCV000172987.1,