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rs869025321

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869025321(G;T)
Make rs869025321(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position23604491
GeneSOX5
is asnp
is mentioned by
dbSNPrs869025321
ebirs869025321
HLIrs869025321
Exacrs869025321
Varsomers869025321
Maprs869025321
PheGenIrs869025321
hapmaprs869025321
1000 genomesrs869025321
hgdprs869025321
ensemblrs869025321
gopubmedrs869025321
geneviewrs869025321
scholarrs869025321
googlers869025321
pharmgkbrs869025321
gwascentralrs869025321
openSNPrs869025321
23andMers869025321
23andMe allrs869025321
SNP Nexus

SNPshotrs869025321
SNPdbers869025321
MSV3drs869025321
GWAS Ctlgrs869025321
Max Magnitude0
ClinVar
Risk rs869025321(T;T)
Alt rs869025321(T;T)
Reference rs869025321(G;G)
Significance Pathogenic
Disease Lamb-shaffer syndrome
Variation info
Gene SOX5
CLNDBN Lamb-shaffer syndrome
Reversed 1
HGVS NC_000012.11:g.23757425C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000207472.1,