rs137852500

Orientation

plus

Stabilized

plus

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

Make rs137852500(A;A)

Make rs137852500(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

134475218

Gene

HPRT1

is a	snp
is	mentioned by
dbSNP	rs137852500
dbSNP (classic)	rs137852500
ClinGen	rs137852500
ebi	rs137852500
HLI	rs137852500
Exac	rs137852500
Gnomad	rs137852500
Varsome	rs137852500
LitVar	rs137852500
Map	rs137852500
PheGenI	rs137852500
Biobank	rs137852500
1000 genomes	rs137852500
hgdp	rs137852500
ensembl	rs137852500
geneview	rs137852500
scholar	rs137852500
google	rs137852500
pharmgkb	rs137852500
gwascentral	rs137852500
openSNP	rs137852500
23andMe	rs137852500
SNPshot	rs137852500
SNPdbe	rs137852500
MSV3d	rs137852500
GWAS Ctlg	rs137852500

Max Magnitude

0

OMIM	308000
Desc
Variant	0050
Related	also

ClinVar
Risk	rs137852500(A;A)
Alt	rs137852500(A;A)
Reference	Rs137852500(G;G)
Significance	Other
Disease	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency HPRT TOOWONG
Variation	info
Gene	HPRT1
CLNDBN	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency HPRT TOOWONG
Reversed	0
HGVS	NC_000023.10:g.133609248G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010779.4, RCV000010780.1,