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rs747171013

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs747171013(G;T)
Make rs747171013(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome10
Position72008094
GeneCHST3
is asnp
is mentioned by
dbSNPrs747171013
ebirs747171013
HLIrs747171013
Exacrs747171013
Varsomers747171013
Maprs747171013
PheGenIrs747171013
hapmaprs747171013
1000 genomesrs747171013
hgdprs747171013
ensemblrs747171013
gopubmedrs747171013
geneviewrs747171013
scholarrs747171013
googlers747171013
pharmgkbrs747171013
gwascentralrs747171013
openSNPrs747171013
23andMers747171013
23andMe allrs747171013
SNP Nexus

SNPshotrs747171013
SNPdbers747171013
MSV3drs747171013
GWAS Ctlgrs747171013
Max Magnitude0
ClinVar
Risk rs747171013(T;T)
Alt rs747171013(T;T)
Reference rs747171013(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.73767852G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000210956.1,