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rs878853163

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs878853163(A;T)
Make rs878853163(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position199323850
GeneSATB2
is asnp
is mentioned by
dbSNPrs878853163
dbSNP (classic)rs878853163
ClinGenrs878853163
ebirs878853163
HLIrs878853163
Exacrs878853163
Gnomadrs878853163
Varsomers878853163
LitVarrs878853163
Maprs878853163
PheGenIrs878853163
Biobankrs878853163
1000 genomesrs878853163
hgdprs878853163
ensemblrs878853163
geneviewrs878853163
scholarrs878853163
googlers878853163
pharmgkbrs878853163
gwascentralrs878853163
openSNPrs878853163
23andMers878853163
SNPshotrs878853163
SNPdbers878853163
MSV3drs878853163
GWAS Ctlgrs878853163
Max Magnitude0
ClinVar
Risk rs878853163(T;T)
Alt rs878853163(T;T)
Reference Rs878853163(A;A)
Significance Pathogenic
Disease Chromosome 2q32-q33 deletion syndrome
Variation info
Gene SATB2
CLNDBN Chromosome 2q32-q33 deletion syndrome
Reversed 1
HGVS NC_000002.11:g.200188573T>A
CLNSRC
CLNACC RCV000224980.1,