rs137852494

Orientation

plus

Stabilized

plus

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

Make rs137852494(C;G)

Make rs137852494(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

134475197

Gene

HPRT1

is a	snp
is	mentioned by
dbSNP	rs137852494
dbSNP (classic)	rs137852494
ClinGen	rs137852494
ebi	rs137852494
HLI	rs137852494
Exac	rs137852494
Gnomad	rs137852494
Varsome	rs137852494
LitVar	rs137852494
Map	rs137852494
PheGenI	rs137852494
Biobank	rs137852494
1000 genomes	rs137852494
hgdp	rs137852494
ensembl	rs137852494
geneview	rs137852494
scholar	rs137852494
google	rs137852494
pharmgkb	rs137852494
gwascentral	rs137852494
openSNP	rs137852494
23andMe	rs137852494
SNPshot	rs137852494
SNPdbe	rs137852494
MSV3d	rs137852494
GWAS Ctlg	rs137852494

Max Magnitude

0

OMIM	308000
Desc
Variant	0034
Related	also

OMIM	308000
Desc
Variant	0035
Related	also

ClinVar
Risk	rs137852494(G;G) rs137852494(T;T)
Alt	rs137852494(G;G) rs137852494(T;T)
Reference	Rs137852494(C;C)
Significance	Other
Disease	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency HPRT TORONTO Lesch-Nyhan syndrome HPRT FUJIMI not provided
Variation	info
Gene	HPRT1
CLNDBN	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency HPRT TORONTO Lesch-Nyhan syndrome HPRT FUJIMI not provided
Reversed	0
HGVS	NC_000023.10:g.133609227C>G; NC_000023.10:g.133609227C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein) HGMD
CLNACC	RCV000010759.2, RCV000010760.1, RCV000010761.5, RCV000010762.1, RCV000153366.3,