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rs137853127

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853127(C;T)
Make rs137853127(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position199349159
GeneSATB2
is asnp
is mentioned by
dbSNPrs137853127
ebirs137853127
HLIrs137853127
Exacrs137853127
Varsomers137853127
Maprs137853127
PheGenIrs137853127
hapmaprs137853127
1000 genomesrs137853127
hgdprs137853127
ensemblrs137853127
gopubmedrs137853127
geneviewrs137853127
scholarrs137853127
googlers137853127
pharmgkbrs137853127
gwascentralrs137853127
openSNPrs137853127
23andMers137853127
23andMe allrs137853127
SNP Nexus

SNPshotrs137853127
SNPdbers137853127
MSV3drs137853127
GWAS Ctlgrs137853127
Max Magnitude0
OMIM608148
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137853127(T;T)
Alt rs137853127(T;T)
Reference rs137853127(C;C)
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.200213882G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002627.5,