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rs145538723

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs145538723(A;A)
Make rs145538723(A;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position72007506
GeneCHST3
is asnp
is mentioned by
dbSNPrs145538723
ebirs145538723
HLIrs145538723
Exacrs145538723
Varsomers145538723
Maprs145538723
PheGenIrs145538723
hapmaprs145538723
1000 genomesrs145538723
hgdprs145538723
ensemblrs145538723
gopubmedrs145538723
geneviewrs145538723
scholarrs145538723
googlers145538723
pharmgkbrs145538723
gwascentralrs145538723
openSNPrs145538723
23andMers145538723
23andMe allrs145538723
SNP Nexus

SNPshotrs145538723
SNPdbers145538723
MSV3drs145538723
GWAS Ctlgrs145538723
Max Magnitude0
ClinVar
Risk rs145538723(A;A)
Alt rs145538723(A;A)
Reference rs145538723(T;T)
Significance Pathogenic
Disease Spondyloepiphyseal dysplasia with congenital joint dislocations
Variation info
Gene CHST3
CLNDBN Spondyloepiphyseal dysplasia with congenital joint dislocations
Reversed 0
HGVS NC_000010.10:g.73767264T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006421.3,