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rs863224917

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs863224917(C;T)
Make rs863224917(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position199348705
GeneSATB2
is asnp
is mentioned by
dbSNPrs863224917
ebirs863224917
HLIrs863224917
Exacrs863224917
Varsomers863224917
Maprs863224917
PheGenIrs863224917
hapmaprs863224917
1000 genomesrs863224917
hgdprs863224917
ensemblrs863224917
gopubmedrs863224917
geneviewrs863224917
scholarrs863224917
googlers863224917
pharmgkbrs863224917
gwascentralrs863224917
openSNPrs863224917
23andMers863224917
23andMe allrs863224917
SNP Nexus

SNPshotrs863224917
SNPdbers863224917
MSV3drs863224917
GWAS Ctlgrs863224917
Max Magnitude0
ClinVar
Risk rs863224917(T;T)
Alt rs863224917(T;T)
Reference rs863224917(C;C)
Significance Probable-Pathogenic
Disease Chromosome 2q32-q33 deletion syndrome
Variation info
Gene SATB2
CLNDBN Chromosome 2q32-q33 deletion syndrome
Reversed 1
HGVS NC_000002.11:g.200213428G>A
CLNSRC
CLNACC RCV000199456.1,