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rs1057519399

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057519399(-;-)
Make rs1057519399(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position89281038
GeneANKRD11
is asnp
is mentioned by
dbSNPrs1057519399
dbSNP (classic)rs1057519399
ClinGenrs1057519399
ebirs1057519399
HLIrs1057519399
Exacrs1057519399
Gnomadrs1057519399
Varsomers1057519399
LitVarrs1057519399
Maprs1057519399
PheGenIrs1057519399
Biobankrs1057519399
1000 genomesrs1057519399
hgdprs1057519399
ensemblrs1057519399
geneviewrs1057519399
scholarrs1057519399
googlers1057519399
pharmgkbrs1057519399
gwascentralrs1057519399
openSNPrs1057519399
23andMers1057519399
23andMe allrs1057519399
SNPshotrs1057519399
SNPdbers1057519399
MSV3drs1057519399
GWAS Ctlgrs1057519399
Max Magnitude0
ClinVar
Risk rs1057519399(-;-)
Alt rs1057519399(-;-)
Reference Rs1057519399(T;T)
Significance Pathogenic
Disease KBG syndrome
Variation info
Gene ANKRD11
CLNDBN KBG syndrome
Reversed 1
HGVS NC_000016.9:g.89347446delA
CLNSRC
CLNACC RCV000417088.1,