rs137852496

Orientation

plus

Stabilized

plus

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

Make rs137852496(A;A)

Make rs137852496(A;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

134493533

Gene

HPRT1

is a	snp
is	mentioned by
dbSNP	rs137852496
dbSNP (classic)	rs137852496
ClinGen	rs137852496
ebi	rs137852496
HLI	rs137852496
Exac	rs137852496
Gnomad	rs137852496
Varsome	rs137852496
LitVar	rs137852496
Map	rs137852496
PheGenI	rs137852496
Biobank	rs137852496
1000 genomes	rs137852496
hgdp	rs137852496
ensembl	rs137852496
geneview	rs137852496
scholar	rs137852496
google	rs137852496
pharmgkb	rs137852496
gwascentral	rs137852496
openSNP	rs137852496
23andMe	rs137852496
SNPshot	rs137852496
SNPdbe	rs137852496
MSV3d	rs137852496
GWAS Ctlg	rs137852496

Max Magnitude

0

OMIM	308000
Desc
Variant	0037
Related	also

ClinVar
Risk	rs137852496(A;A)
Alt	rs137852496(A;A)
Reference	Rs137852496(T;T)
Significance	Pathogenic
Disease	Lesch-Nyhan syndrome
Variation	info
Gene	HPRT1
CLNDBN	Lesch-Nyhan syndrome
Reversed	0
HGVS	NC_000023.10:g.133627563T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010765.5,