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rs869312713

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869312713(G;T)
Make rs869312713(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome16
Position89280070
GeneANKRD11
is asnp
is mentioned by
dbSNPrs869312713
ebirs869312713
HLIrs869312713
Exacrs869312713
Varsomers869312713
Maprs869312713
PheGenIrs869312713
hapmaprs869312713
1000 genomesrs869312713
hgdprs869312713
ensemblrs869312713
gopubmedrs869312713
geneviewrs869312713
scholarrs869312713
googlers869312713
pharmgkbrs869312713
gwascentralrs869312713
openSNPrs869312713
23andMers869312713
23andMe allrs869312713
SNP Nexus

SNPshotrs869312713
SNPdbers869312713
MSV3drs869312713
GWAS Ctlgrs869312713
Max Magnitude0
ClinVar
Risk rs869312713(T;T)
Alt rs869312713(T;T)
Reference rs869312713(G;G)
Significance Pathogenic
Disease KBG syndrome
Variation info
Gene ANKRD11
CLNDBN KBG syndrome
Reversed 1
HGVS NC_000016.9:g.89346478C>A
CLNSRC
CLNACC RCV000209927.1,