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rs28935474

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 normal
(C;T) 2
Make rs28935474(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position2934870
GeneARSE
is asnp
is mentioned by
dbSNPrs28935474
ebirs28935474
HLIrs28935474
Exacrs28935474
Varsomers28935474
Maprs28935474
PheGenIrs28935474
hapmaprs28935474
1000 genomesrs28935474
hgdprs28935474
ensemblrs28935474
gopubmedrs28935474
geneviewrs28935474
scholarrs28935474
googlers28935474
pharmgkbrs28935474
gwascentralrs28935474
openSNPrs28935474
23andMers28935474
23andMe allrs28935474
SNP Nexus

SNPshotrs28935474
SNPdbers28935474
MSV3drs28935474
GWAS Ctlgrs28935474
Max Magnitude2
OMIM300180
DescCHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE
Variant0007
Relatedalso


ClinVar
Risk rs28935474(T;T)
Alt rs28935474(T;T)
Reference rs28935474(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.2852911G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012284.11,



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