rs137852492

Orientation

plus

Stabilized

plus

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

Make rs137852492(G;T)

Make rs137852492(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

134498433

Gene

HPRT1

is a	snp
is	mentioned by
dbSNP	rs137852492
dbSNP (classic)	rs137852492
ClinGen	rs137852492
ebi	rs137852492
HLI	rs137852492
Exac	rs137852492
Gnomad	rs137852492
Varsome	rs137852492
LitVar	rs137852492
Map	rs137852492
PheGenI	rs137852492
Biobank	rs137852492
1000 genomes	rs137852492
hgdp	rs137852492
ensembl	rs137852492
geneview	rs137852492
scholar	rs137852492
google	rs137852492
pharmgkb	rs137852492
gwascentral	rs137852492
openSNP	rs137852492
23andMe	rs137852492
SNPshot	rs137852492
SNPdbe	rs137852492
MSV3d	rs137852492
GWAS Ctlg	rs137852492

Max Magnitude

0

OMIM	308000
Desc
Variant	0021
Related	also

ClinVar
Risk	rs137852492(T;T)
Alt	rs137852492(T;T)
Reference	Rs137852492(G;G)
Significance	Pathogenic
Disease	Lesch-Nyhan syndrome
Variation	info
Gene	HPRT1
CLNDBN	Lesch-Nyhan syndrome
Reversed	0
HGVS	NC_000023.10:g.133632463G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010749.4,