Have questions? Visit https://www.reddit.com/r/SNPedia

rs80338710

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80338710(G;G)
Make rs80338710(G;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position2958340
GeneARSE
is asnp
is mentioned by
dbSNPrs80338710
ebirs80338710
HLIrs80338710
Exacrs80338710
Varsomers80338710
Maprs80338710
PheGenIrs80338710
hapmaprs80338710
1000 genomesrs80338710
hgdprs80338710
ensemblrs80338710
gopubmedrs80338710
geneviewrs80338710
scholarrs80338710
googlers80338710
pharmgkbrs80338710
gwascentralrs80338710
openSNPrs80338710
23andMers80338710
23andMe allrs80338710
SNP Nexus

SNPshotrs80338710
SNPdbers80338710
MSV3drs80338710
GWAS Ctlgrs80338710
Max Magnitude0
ClinVar
Risk rs80338710(G;G)
Alt rs80338710(G;G)
Reference rs80338710(T;T)
Significance Pathogenic
Disease Chondrodysplasia punctata 1
Variation info
Gene ARSE
CLNDBN Chondrodysplasia punctata 1, X-linked recessive
Reversed 1
HGVS NC_000023.10:g.2876381A>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000020090.1,


[PMID 18348268] Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata.