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rs772704243

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs772704243(-;-)
Make rs772704243(-;CCGGGG)
Make rs772704243(CCGGGG;CCGGGG)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position2884840
GeneCDKN1C
is asnp
is mentioned by
dbSNPrs772704243
ebirs772704243
HLIrs772704243
Exacrs772704243
Varsomers772704243
Maprs772704243
PheGenIrs772704243
hapmaprs772704243
1000 genomesrs772704243
hgdprs772704243
ensemblrs772704243
gopubmedrs772704243
geneviewrs772704243
scholarrs772704243
googlers772704243
pharmgkbrs772704243
gwascentralrs772704243
openSNPrs772704243
23andMers772704243
23andMe allrs772704243
SNP Nexus

SNPshotrs772704243
SNPdbers772704243
MSV3drs772704243
GWAS Ctlgrs772704243
Max Magnitude0
ClinVar
Risk rs772704243(CCGGGG;CCGGGG)
Alt rs772704243(CCGGGG;CCGGGG)
Reference rs772704243(;)
Significance Pathogenic
Disease Beckwith-Wiedemann syndrome
Variation info
Gene CDKN1C
CLNDBN Beckwith-Wiedemann syndrome
Reversed 0
HGVS NC_000011.9:g.2906071_2906076dupCCGGGG
CLNSRC
CLNACC RCV000172988.1,