rs122460153

Orientation

minus

Stabilized

minus

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

Make rs122460153(C;C)

Make rs122460153(C;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

2953241

Gene

ARSE

is a	snp
is	mentioned by
dbSNP	rs122460153
dbSNP (classic)	rs122460153
ClinGen	rs122460153
ebi	rs122460153
HLI	rs122460153
Exac	rs122460153
Gnomad	rs122460153
Varsome	rs122460153
LitVar	rs122460153
Map	rs122460153
PheGenI	rs122460153
Biobank	rs122460153
1000 genomes	rs122460153
hgdp	rs122460153
ensembl	rs122460153
geneview	rs122460153
scholar	rs122460153
google	rs122460153
pharmgkb	rs122460153
gwascentral	rs122460153
openSNP	rs122460153
23andMe	rs122460153
SNPshot	rs122460153
SNPdbe	rs122460153
MSV3d	rs122460153
GWAS Ctlg	rs122460153

Max Magnitude

0

OMIM	300180
Desc
Variant	0003
Related	also

ClinVar
Risk	rs122460153(A;A) rs122460153(C;C)
Alt	rs122460153(A;A) rs122460153(C;C)
Reference	Rs122460153(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.2871282C>G; NC_000023.10:g.2871282C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012280.25, RCV000414219.1,