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rs878855327

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs878855327(-;-)
Make rs878855327(-;C)
ReferenceGRCh38.p2 38.2/147
Chromosome16
Position89279756
GeneANKRD11
is asnp
is mentioned by
dbSNPrs878855327
dbSNP (classic)rs878855327
ClinGenrs878855327
ebirs878855327
HLIrs878855327
Exacrs878855327
Gnomadrs878855327
Varsomers878855327
LitVarrs878855327
Maprs878855327
PheGenIrs878855327
Biobankrs878855327
1000 genomesrs878855327
hgdprs878855327
ensemblrs878855327
geneviewrs878855327
scholarrs878855327
googlers878855327
pharmgkbrs878855327
gwascentralrs878855327
openSNPrs878855327
23andMers878855327
SNPshotrs878855327
SNPdbers878855327
MSV3drs878855327
GWAS Ctlgrs878855327
Max Magnitude0
ClinVar
Risk rs878855327(-;-)
Alt rs878855327(-;-)
Reference Rs878855327(C;C)
Significance Pathogenic
Disease KBG syndrome
Variation info
Gene ANKRD11
CLNDBN KBG syndrome
Reversed 1
HGVS NC_000016.9:g.89346164delG
CLNSRC
CLNACC RCV000234805.1,