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rs879253753

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs879253753(-;A)
Make rs879253753(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome16
Position89280526
GeneANKRD11
is asnp
is mentioned by
dbSNPrs879253753
dbSNP (classic)rs879253753
ClinGenrs879253753
ebirs879253753
HLIrs879253753
Exacrs879253753
Gnomadrs879253753
Varsomers879253753
LitVarrs879253753
Maprs879253753
PheGenIrs879253753
Biobankrs879253753
1000 genomesrs879253753
hgdprs879253753
ensemblrs879253753
geneviewrs879253753
scholarrs879253753
googlers879253753
pharmgkbrs879253753
gwascentralrs879253753
openSNPrs879253753
23andMers879253753
SNPshotrs879253753
SNPdbers879253753
MSV3drs879253753
GWAS Ctlgrs879253753
Max Magnitude0
ClinVar
Risk rs879253753(A;A)
Alt rs879253753(A;A)
Reference Rs879253753(-;-)
Significance Pathogenic
Disease KBG syndrome
Variation info
Gene ANKRD11
CLNDBN KBG syndrome
Reversed 1
HGVS NC_000016.9:g.89346935dupT
CLNSRC
CLNACC RCV000234963.1,