rs137852501

Orientation

plus

Stabilized

plus

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

Make rs137852501(C;G)

Make rs137852501(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

134475278

Gene

HPRT1

is a	snp
is	mentioned by
dbSNP	rs137852501
dbSNP (classic)	rs137852501
ClinGen	rs137852501
ebi	rs137852501
HLI	rs137852501
Exac	rs137852501
Gnomad	rs137852501
Varsome	rs137852501
LitVar	rs137852501
Map	rs137852501
PheGenI	rs137852501
Biobank	rs137852501
1000 genomes	rs137852501
hgdp	rs137852501
ensembl	rs137852501
geneview	rs137852501
scholar	rs137852501
google	rs137852501
pharmgkb	rs137852501
gwascentral	rs137852501
openSNP	rs137852501
23andMe	rs137852501
SNPshot	rs137852501
SNPdbe	rs137852501
MSV3d	rs137852501
GWAS Ctlg	rs137852501

Max Magnitude

0

OMIM	308000
Desc
Variant	0051
Related	also

ClinVar
Risk	rs137852501(G;G)
Alt	rs137852501(G;G)
Reference	Rs137852501(C;C)
Significance	Other
Disease	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency HPRT SWAN
Variation	info
Gene	HPRT1
CLNDBN	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency HPRT SWAN
Reversed	0
HGVS	NC_000023.10:g.133609308C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010781.4, RCV000010782.1,