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rs80338711

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338711(C;C)
Make rs80338711(C;G)
ReferenceGRCh38 38.1/142
ChromosomeX
Position2953163
GeneARSE
is asnp
is mentioned by
dbSNPrs80338711
ebirs80338711
HLIrs80338711
Exacrs80338711
Varsomers80338711
Maprs80338711
PheGenIrs80338711
hapmaprs80338711
1000 genomesrs80338711
hgdprs80338711
ensemblrs80338711
gopubmedrs80338711
geneviewrs80338711
scholarrs80338711
googlers80338711
pharmgkbrs80338711
gwascentralrs80338711
openSNPrs80338711
23andMers80338711
23andMe allrs80338711
SNP Nexus

SNPshotrs80338711
SNPdbers80338711
MSV3drs80338711
GWAS Ctlgrs80338711
Max Magnitude0
OMIM300180
Desc
Variant0004
Relatedalso
ClinVar
Risk rs80338711(C,T;C,T)
Alt rs80338711(C,T;C,T)
Reference rs80338711(G;G)
Significance Pathogenic
Disease Chondrodysplasia punctata 1 not specified
Variation info
Gene ARSE
CLNDBN Chondrodysplasia punctata 1, X-linked recessive not specified
Reversed 1
HGVS NC_000023.10:g.2871204C>A; NC_000023.10:g.2871204C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000012281.11, RCV000020092.1, RCV000169650.1,


[PMID 9863597OA-icon.png] Segregation of mutations in arylsulphatase E and correlation with the clinical presentation of chondrodysplasia punctata.


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


[PMID 2722194] Brachytelephalangic chondrodysplasia punctata: a possible X-linked recessive form.


[PMID 7720070] A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy.


[PMID 9497243OA-icon.png] Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata.