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rs863223320

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs863223320(-;-)
Make rs863223320(-;T)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position89284237
GeneANKRD11
is asnp
is mentioned by
dbSNPrs863223320
dbSNP (classic)rs863223320
ClinGenrs863223320
ebirs863223320
HLIrs863223320
Exacrs863223320
Gnomadrs863223320
Varsomers863223320
LitVarrs863223320
Maprs863223320
PheGenIrs863223320
Biobankrs863223320
1000 genomesrs863223320
hgdprs863223320
ensemblrs863223320
geneviewrs863223320
scholarrs863223320
googlers863223320
pharmgkbrs863223320
gwascentralrs863223320
openSNPrs863223320
23andMers863223320
SNPshotrs863223320
SNPdbers863223320
MSV3drs863223320
GWAS Ctlgrs863223320
Max Magnitude0
ClinVar
Risk rs863223320(-;-)
Alt rs863223320(-;-)
Reference Rs863223320(T;T)
Significance Pathogenic
Disease KBG syndrome
Variation info
Gene ANKRD11
CLNDBN KBG syndrome
Reversed 1
HGVS NC_000016.9:g.89350645delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000023876.3,