rs137852482

Orientation

plus

Stabilized

plus

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

Make rs137852482(C;T)

Make rs137852482(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

134486475

Gene

HPRT1

is a	snp
is	mentioned by
dbSNP	rs137852482
dbSNP (classic)	rs137852482
ClinGen	rs137852482
ebi	rs137852482
HLI	rs137852482
Exac	rs137852482
Gnomad	rs137852482
Varsome	rs137852482
LitVar	rs137852482
Map	rs137852482
PheGenI	rs137852482
Biobank	rs137852482
1000 genomes	rs137852482
hgdp	rs137852482
ensembl	rs137852482
geneview	rs137852482
scholar	rs137852482
google	rs137852482
pharmgkb	rs137852482
gwascentral	rs137852482
openSNP	rs137852482
23andMe	rs137852482
SNPshot	rs137852482
SNPdbe	rs137852482
MSV3d	rs137852482
GWAS Ctlg	rs137852482

Max Magnitude

0

OMIM	308000
Desc
Variant	0010
Related	also

ClinVar
Risk	rs137852482(T;T)
Alt	rs137852482(T;T)
Reference	Rs137852482(C;C)
Significance	Other
Disease	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency HPRT LONDON
Variation	info
Gene	HPRT1
CLNDBN	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency HPRT LONDON
Reversed	0
HGVS	NC_000023.10:g.133620505C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010730.4, RCV000010731.1,