rs137852478

Orientation

plus

Stabilized

plus

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

Make rs137852478(A;T)

Make rs137852478(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

134475285

Gene

HPRT1

is a	snp
is	mentioned by
dbSNP	rs137852478
dbSNP (classic)	rs137852478
ClinGen	rs137852478
ebi	rs137852478
HLI	rs137852478
Exac	rs137852478
Gnomad	rs137852478
Varsome	rs137852478
LitVar	rs137852478
Map	rs137852478
PheGenI	rs137852478
Biobank	rs137852478
1000 genomes	rs137852478
hgdp	rs137852478
ensembl	rs137852478
geneview	rs137852478
scholar	rs137852478
google	rs137852478
pharmgkb	rs137852478
gwascentral	rs137852478
openSNP	rs137852478
23andMe	rs137852478
SNPshot	rs137852478
SNPdbe	rs137852478
MSV3d	rs137852478
GWAS Ctlg	rs137852478

Max Magnitude

0

OMIM	308000
Desc
Variant	0002
Related	also

ClinVar
Risk	rs137852478(T;T)
Alt	rs137852478(T;T)
Reference	Rs137852478(A;A)
Significance	Other
Disease	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency HPRT ARLINGTON
Variation	info
Gene	HPRT1
CLNDBN	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency HPRT ARLINGTON
Reversed	0
HGVS	NC_000023.10:g.133609315A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010714.2, RCV000010715.1,