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rs80338714

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338714(A;A)
Make rs80338714(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position2934859
GeneARSE
is asnp
is mentioned by
dbSNPrs80338714
ebirs80338714
HLIrs80338714
Exacrs80338714
Varsomers80338714
Maprs80338714
PheGenIrs80338714
hapmaprs80338714
1000 genomesrs80338714
hgdprs80338714
ensemblrs80338714
gopubmedrs80338714
geneviewrs80338714
scholarrs80338714
googlers80338714
pharmgkbrs80338714
gwascentralrs80338714
openSNPrs80338714
23andMers80338714
23andMe allrs80338714
SNP Nexus

SNPshotrs80338714
SNPdbers80338714
MSV3drs80338714
GWAS Ctlgrs80338714
Max Magnitude0
OMIM300180
Desc
Variant0008
Relatedalso
ClinVar
Risk rs80338714(A;A)
Alt rs80338714(A;A)
Reference rs80338714(G;G)
Significance Pathogenic
Disease Chondrodysplasia punctata 1
Variation info
Gene ARSE
CLNDBN Chondrodysplasia punctata 1, X-linked recessive
Reversed 1
HGVS NC_000023.10:g.2852900C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012285.24,


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