rs137852489

Orientation

plus

Stabilized

plus

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

Make rs137852489(C;T)

Make rs137852489(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

134486471

Gene

HPRT1

is a	snp
is	mentioned by
dbSNP	rs137852489
dbSNP (classic)	rs137852489
ClinGen	rs137852489
ebi	rs137852489
HLI	rs137852489
Exac	rs137852489
Gnomad	rs137852489
Varsome	rs137852489
LitVar	rs137852489
Map	rs137852489
PheGenI	rs137852489
Biobank	rs137852489
1000 genomes	rs137852489
hgdp	rs137852489
ensembl	rs137852489
geneview	rs137852489
scholar	rs137852489
google	rs137852489
pharmgkb	rs137852489
gwascentral	rs137852489
openSNP	rs137852489
23andMe	rs137852489
SNPshot	rs137852489
SNPdbe	rs137852489
MSV3d	rs137852489
GWAS Ctlg	rs137852489

Max Magnitude

0

OMIM	308000
Desc
Variant	0018
Related	also

ClinVar
Risk	rs137852489(A;A) rs137852489(T;T)
Alt	rs137852489(A;A) rs137852489(T;T)
Reference	Rs137852489(C;C)
Significance	Pathogenic
Disease	Lesch-Nyhan syndrome
Variation	info
Gene	HPRT1
CLNDBN	Lesch-Nyhan syndrome
Reversed	0
HGVS	NC_000023.10:g.133620501C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000010746.2,