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rs267606734

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267606734(A;A)
Make rs267606734(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position72008145
GeneCHST3
is asnp
is mentioned by
dbSNPrs267606734
dbSNP (classic)rs267606734
ClinGenrs267606734
ebirs267606734
HLIrs267606734
Exacrs267606734
Gnomadrs267606734
Varsomers267606734
LitVarrs267606734
Maprs267606734
PheGenIrs267606734
Biobankrs267606734
1000 genomesrs267606734
hgdprs267606734
ensemblrs267606734
geneviewrs267606734
scholarrs267606734
googlers267606734
pharmgkbrs267606734
gwascentralrs267606734
openSNPrs267606734
23andMers267606734
SNPshotrs267606734
SNPdbers267606734
MSV3drs267606734
GWAS Ctlgrs267606734
Max Magnitude0
ClinVar
Risk rs267606734(A;A)
Alt rs267606734(A;A)
Reference Rs267606734(G;G)
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.73767903G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006414.4,