rs80338714

Orientation

minus

Stabilized

minus

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

Make rs80338714(A;A)

Make rs80338714(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

2934859

Gene

ARSE

is a	snp
is	mentioned by
dbSNP	rs80338714
dbSNP (classic)	rs80338714
ClinGen	rs80338714
ebi	rs80338714
HLI	rs80338714
Exac	rs80338714
Gnomad	rs80338714
Varsome	rs80338714
LitVar	rs80338714
Map	rs80338714
PheGenI	rs80338714
Biobank	rs80338714
1000 genomes	rs80338714
hgdp	rs80338714
ensembl	rs80338714
geneview	rs80338714
scholar	rs80338714
google	rs80338714
pharmgkb	rs80338714
gwascentral	rs80338714
openSNP	rs80338714
23andMe	rs80338714
SNPshot	rs80338714
SNPdbe	rs80338714
MSV3d	rs80338714
GWAS Ctlg	rs80338714

Max Magnitude

0

OMIM	300180
Desc
Variant	0008
Related	also

ClinVar
Risk	rs80338714(A;A)
Alt	rs80338714(A;A)
Reference	Rs80338714(G;G)
Significance	Pathogenic
Disease	Chondrodysplasia punctata 1 not provided
Variation	info
Gene	ARSE
CLNDBN	Chondrodysplasia punctata 1, X-linked recessive not provided
Reversed	1
HGVS	NC_000023.10:g.2852900C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012285.24, RCV000485780.1,

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