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rs80338713

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338713(C;T)
Make rs80338713(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position2935160
GeneARSE
is asnp
is mentioned by
dbSNPrs80338713
ebirs80338713
HLIrs80338713
Exacrs80338713
Varsomers80338713
Maprs80338713
PheGenIrs80338713
hapmaprs80338713
1000 genomesrs80338713
hgdprs80338713
ensemblrs80338713
gopubmedrs80338713
geneviewrs80338713
scholarrs80338713
googlers80338713
pharmgkbrs80338713
gwascentralrs80338713
openSNPrs80338713
23andMers80338713
23andMe allrs80338713
SNP Nexus

SNPshotrs80338713
SNPdbers80338713
MSV3drs80338713
GWAS Ctlgrs80338713
Max Magnitude0
ClinVar
Risk rs80338713(T;T)
Alt rs80338713(T;T)
Reference rs80338713(C;C)
Significance Pathogenic
Disease Chondrodysplasia punctata 1
Variation info
Gene ARSE
CLNDBN Chondrodysplasia punctata 1, X-linked recessive
Reversed 1
HGVS NC_000023.10:g.2853201G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020091.1,


[PMID 12567415] X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability.