rs28935474

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	normal
(C;T)	2

Make rs28935474(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

2934870

Gene

ARSE

is a	snp
is	mentioned by
dbSNP	rs28935474
dbSNP (classic)	rs28935474
ClinGen	rs28935474
ebi	rs28935474
HLI	rs28935474
Exac	rs28935474
Gnomad	rs28935474
Varsome	rs28935474
LitVar	rs28935474
Map	rs28935474
PheGenI	rs28935474
Biobank	rs28935474
1000 genomes	rs28935474
hgdp	rs28935474
ensembl	rs28935474
geneview	rs28935474
scholar	rs28935474
google	rs28935474
pharmgkb	rs28935474
gwascentral	rs28935474
openSNP	rs28935474
23andMe	rs28935474
SNPshot	rs28935474
SNPdbe	rs28935474
MSV3d	rs28935474
GWAS Ctlg	rs28935474

Max Magnitude

2

OMIM	300180
Desc	CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE
Variant	0007
Related	also

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 UniProtKB (protein)
CLNACC	RCV000012284.11,

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