rs137852488

Orientation

plus

Stabilized

plus

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

Make rs137852488(C;C)

Make rs137852488(C;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

134475257

Gene

HPRT1

is a	snp
is	mentioned by
dbSNP	rs137852488
dbSNP (classic)	rs137852488
ClinGen	rs137852488
ebi	rs137852488
HLI	rs137852488
Exac	rs137852488
Gnomad	rs137852488
Varsome	rs137852488
LitVar	rs137852488
Map	rs137852488
PheGenI	rs137852488
Biobank	rs137852488
1000 genomes	rs137852488
hgdp	rs137852488
ensembl	rs137852488
geneview	rs137852488
scholar	rs137852488
google	rs137852488
pharmgkb	rs137852488
gwascentral	rs137852488
openSNP	rs137852488
23andMe	rs137852488
SNPshot	rs137852488
SNPdbe	rs137852488
MSV3d	rs137852488
GWAS Ctlg	rs137852488

Max Magnitude

0

OMIM	308000
Desc
Variant	0017
Related	also

ClinVar
Risk	rs137852488(C;C)
Alt	rs137852488(C;C)
Reference	Rs137852488(G;G)
Significance	Other
Disease	Lesch-Nyhan syndrome HPRT YALE not provided
Variation	info
Gene	HPRT1
CLNDBN	Lesch-Nyhan syndrome HPRT YALE not provided
Reversed	0
HGVS	NC_000023.10:g.133609287G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010744.6, RCV000010745.1, RCV000177012.1,