rs145946864

Orientation

plus

Stabilized

plus

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

Make rs145946864(A;A)

Make rs145946864(A;G)

Reference

GRCh38 38.1/142

Chromosome

X

Position

2953236

Gene

ARSE

is a	snp
is	mentioned by
dbSNP	rs145946864
dbSNP (classic)	rs145946864
ClinGen	rs145946864
ebi	rs145946864
HLI	rs145946864
Exac	rs145946864
Gnomad	rs145946864
Varsome	rs145946864
LitVar	rs145946864
Map	rs145946864
PheGenI	rs145946864
Biobank	rs145946864
1000 genomes	rs145946864
hgdp	rs145946864
ensembl	rs145946864
geneview	rs145946864
scholar	rs145946864
google	rs145946864
pharmgkb	rs145946864
gwascentral	rs145946864
openSNP	rs145946864
23andMe	rs145946864
SNPshot	rs145946864
SNPdbe	rs145946864
MSV3d	rs145946864
GWAS Ctlg	rs145946864

Max Magnitude

0

ClinVar
Risk	rs145946864(A;A)
Alt	rs145946864(A;A)
Reference	Rs145946864(G;G)
Significance	Probable-Pathogenic
Disease	Chondrodysplasia punctata 1
Variation	info
Gene	ARSE
CLNDBN	Chondrodysplasia punctata 1, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.2871277G>A
CLNSRC	ClinVar University of Chicago
CLNACC	RCV000145030.1,