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rs1057518663

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057518663(A;A)
Make rs1057518663(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position89283420
GeneANKRD11
is asnp
is mentioned by
dbSNPrs1057518663
dbSNP (classic)rs1057518663
ClinGenrs1057518663
ebirs1057518663
HLIrs1057518663
Exacrs1057518663
Gnomadrs1057518663
Varsomers1057518663
LitVarrs1057518663
Maprs1057518663
PheGenIrs1057518663
Biobankrs1057518663
1000 genomesrs1057518663
hgdprs1057518663
ensemblrs1057518663
geneviewrs1057518663
scholarrs1057518663
googlers1057518663
pharmgkbrs1057518663
gwascentralrs1057518663
openSNPrs1057518663
23andMers1057518663
SNPshotrs1057518663
SNPdbers1057518663
MSV3drs1057518663
GWAS Ctlgrs1057518663
Max Magnitude0
ClinVar
Risk rs1057518663(A;A)
Alt rs1057518663(A;A)
Reference Rs1057518663(C;C)
Significance Pathogenic
Disease KBG syndrome
Variation info
Gene ANKRD11
CLNDBN KBG syndrome
Reversed 1
HGVS NC_000016.9:g.89349828G>T
CLNSRC
CLNACC RCV000414961.1,