rs122460155

Orientation

minus

Stabilized

minus

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

Make rs122460155(A;A)

Make rs122460155(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

2935127

Gene

ARSE

is a	snp
is	mentioned by
dbSNP	rs122460155
dbSNP (classic)	rs122460155
ClinGen	rs122460155
ebi	rs122460155
HLI	rs122460155
Exac	rs122460155
Gnomad	rs122460155
Varsome	rs122460155
LitVar	rs122460155
Map	rs122460155
PheGenI	rs122460155
Biobank	rs122460155
1000 genomes	rs122460155
hgdp	rs122460155
ensembl	rs122460155
geneview	rs122460155
scholar	rs122460155
google	rs122460155
pharmgkb	rs122460155
gwascentral	rs122460155
openSNP	rs122460155
23andMe	rs122460155
SNPshot	rs122460155
SNPdbe	rs122460155
MSV3d	rs122460155
GWAS Ctlg	rs122460155

Max Magnitude

0

OMIM	300180
Desc
Variant	0006
Related	also

ClinVar
Risk	rs122460155(A;A)
Alt	rs122460155(A;A)
Reference	Rs122460155(G;G)
Significance	Pathogenic
Disease	Chondrodysplasia punctata 1
Variation	info
Gene	ARSE
CLNDBN	Chondrodysplasia punctata 1, X-linked recessive
Reversed	1
HGVS	NC_000023.10:g.2853168C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012283.11,