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rs863223319

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863223319(C;C)
Make rs863223319(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position89274958
GeneANKRD11
is asnp
is mentioned by
dbSNPrs863223319
dbSNP (classic)rs863223319
ClinGenrs863223319
ebirs863223319
HLIrs863223319
Exacrs863223319
Gnomadrs863223319
Varsomers863223319
LitVarrs863223319
Maprs863223319
PheGenIrs863223319
Biobankrs863223319
1000 genomesrs863223319
hgdprs863223319
ensemblrs863223319
geneviewrs863223319
scholarrs863223319
googlers863223319
pharmgkbrs863223319
gwascentralrs863223319
openSNPrs863223319
23andMers863223319
SNPshotrs863223319
SNPdbers863223319
MSV3drs863223319
GWAS Ctlgrs863223319
Max Magnitude0
ClinVar
Risk rs863223319(A;A) rs863223319(C;C)
Alt rs863223319(A;A) rs863223319(C;C)
Reference Rs863223319(G;G)
Significance Pathogenic
Disease KBG syndrome not provided
Variation info
Gene ANKRD11
CLNDBN KBG syndrome not provided
Reversed 1
HGVS NC_000016.9:g.89341366C>G; NC_000016.9:g.89341366C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023875.3, RCV000418665.1,