rs80338710

Orientation

minus

Stabilized

minus

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

Make rs80338710(G;G)

Make rs80338710(G;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

2958340

Gene

ARSE

is a	snp
is	mentioned by
dbSNP	rs80338710
dbSNP (classic)	rs80338710
ClinGen	rs80338710
ebi	rs80338710
HLI	rs80338710
Exac	rs80338710
Gnomad	rs80338710
Varsome	rs80338710
LitVar	rs80338710
Map	rs80338710
PheGenI	rs80338710
Biobank	rs80338710
1000 genomes	rs80338710
hgdp	rs80338710
ensembl	rs80338710
geneview	rs80338710
scholar	rs80338710
google	rs80338710
pharmgkb	rs80338710
gwascentral	rs80338710
openSNP	rs80338710
23andMe	rs80338710
SNPshot	rs80338710
SNPdbe	rs80338710
MSV3d	rs80338710
GWAS Ctlg	rs80338710

Max Magnitude

0

ClinVar
Risk	rs80338710(G;G)
Alt	rs80338710(G;G)
Reference	Rs80338710(T;T)
Significance	Pathogenic
Disease	Chondrodysplasia punctata 1
Variation	info
Gene	ARSE
CLNDBN	Chondrodysplasia punctata 1, X-linked recessive
Reversed	1
HGVS	NC_000023.10:g.2876381A>C
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020090.1,

[PMID 18348268] Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata.