rs80338713

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs80338713(C;T)

Make rs80338713(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

2935160

Gene

ARSE

is a	snp
is	mentioned by
dbSNP	rs80338713
dbSNP (classic)	rs80338713
ClinGen	rs80338713
ebi	rs80338713
HLI	rs80338713
Exac	rs80338713
Gnomad	rs80338713
Varsome	rs80338713
LitVar	rs80338713
Map	rs80338713
PheGenI	rs80338713
Biobank	rs80338713
1000 genomes	rs80338713
hgdp	rs80338713
ensembl	rs80338713
geneview	rs80338713
scholar	rs80338713
google	rs80338713
pharmgkb	rs80338713
gwascentral	rs80338713
openSNP	rs80338713
23andMe	rs80338713
SNPshot	rs80338713
SNPdbe	rs80338713
MSV3d	rs80338713
GWAS Ctlg	rs80338713

Max Magnitude

0

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	UniProtKB (protein)
CLNACC	RCV000020091.1,

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