rs137852497

Orientation

plus

Stabilized

plus

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

Make rs137852497(C;T)

Make rs137852497(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

134498412

Gene

HPRT1

is a	snp
is	mentioned by
dbSNP	rs137852497
dbSNP (classic)	rs137852497
ClinGen	rs137852497
ebi	rs137852497
HLI	rs137852497
Exac	rs137852497
Gnomad	rs137852497
Varsome	rs137852497
LitVar	rs137852497
Map	rs137852497
PheGenI	rs137852497
Biobank	rs137852497
1000 genomes	rs137852497
hgdp	rs137852497
ensembl	rs137852497
geneview	rs137852497
scholar	rs137852497
google	rs137852497
pharmgkb	rs137852497
gwascentral	rs137852497
openSNP	rs137852497
23andMe	rs137852497
SNPshot	rs137852497
SNPdbe	rs137852497
MSV3d	rs137852497
GWAS Ctlg	rs137852497

Max Magnitude

0

OMIM	308000
Desc
Variant	0038
Related	also

ClinVar
Risk	rs137852497(A;A) rs137852497(T;T)
Alt	rs137852497(A;A) rs137852497(T;T)
Reference	Rs137852497(C;C)
Significance	Pathogenic
Disease	Lesch-Nyhan syndrome
Variation	info
Gene	HPRT1
CLNDBN	Lesch-Nyhan syndrome
Reversed	0
HGVS	NC_000023.10:g.133632442C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000010766.4,