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rs863223321

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CA;CA) 0 common in clinvar
Make rs863223321(-;-)
Make rs863223321(-;CA)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position89280588
GeneANKRD11
is asnp
is mentioned by
dbSNPrs863223321
dbSNP (classic)rs863223321
ClinGenrs863223321
ebirs863223321
HLIrs863223321
Exacrs863223321
Gnomadrs863223321
Varsomers863223321
LitVarrs863223321
Maprs863223321
PheGenIrs863223321
Biobankrs863223321
1000 genomesrs863223321
hgdprs863223321
ensemblrs863223321
geneviewrs863223321
scholarrs863223321
googlers863223321
pharmgkbrs863223321
gwascentralrs863223321
openSNPrs863223321
23andMers863223321
SNPshotrs863223321
SNPdbers863223321
MSV3drs863223321
GWAS Ctlgrs863223321
Max Magnitude0
ClinVar
Risk rs863223321(-;-)
Alt rs863223321(-;-)
Reference Rs863223321(CA;CA)
Significance Pathogenic
Disease KBG syndrome
Variation info
Gene ANKRD11
CLNDBN KBG syndrome
Reversed 1
HGVS NC_000016.9:g.89346996_89346997delTG
CLNSRC OMIM Allelic Variant
CLNACC RCV000023877.3,