rs137852504

Orientation

plus

Stabilized

plus

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

Make rs137852504(C;G)

Make rs137852504(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

134498657

Gene

HPRT1

is a	snp
is	mentioned by
dbSNP	rs137852504
dbSNP (classic)	rs137852504
ClinGen	rs137852504
ebi	rs137852504
HLI	rs137852504
Exac	rs137852504
Gnomad	rs137852504
Varsome	rs137852504
LitVar	rs137852504
Map	rs137852504
PheGenI	rs137852504
Biobank	rs137852504
1000 genomes	rs137852504
hgdp	rs137852504
ensembl	rs137852504
geneview	rs137852504
scholar	rs137852504
google	rs137852504
pharmgkb	rs137852504
gwascentral	rs137852504
openSNP	rs137852504
23andMe	rs137852504
SNPshot	rs137852504
SNPdbe	rs137852504
MSV3d	rs137852504
GWAS Ctlg	rs137852504

Max Magnitude

0

OMIM	308000
Desc
Variant	0056
Related	also

ClinVar
Risk	rs137852504(G;G)
Alt	rs137852504(G;G)
Reference	Rs137852504(C;C)
Significance	Other
Disease	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency HPRT MOOSE JAW
Variation	info
Gene	HPRT1
CLNDBN	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency HPRT MOOSE JAW
Reversed	0
HGVS	NC_000023.10:g.133632687C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010791.3, RCV000010792.1,