rs137852481

Orientation

plus

Stabilized

plus

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

Make rs137852481(A;A)

Make rs137852481(A;C)

Reference

GRCh38 38.1/141

Chromosome

X

Position

134475268

Gene

HPRT1

is a	snp
is	mentioned by
dbSNP	rs137852481
dbSNP (classic)	rs137852481
ClinGen	rs137852481
ebi	rs137852481
HLI	rs137852481
Exac	rs137852481
Gnomad	rs137852481
Varsome	rs137852481
LitVar	rs137852481
Map	rs137852481
PheGenI	rs137852481
Biobank	rs137852481
1000 genomes	rs137852481
hgdp	rs137852481
ensembl	rs137852481
geneview	rs137852481
scholar	rs137852481
google	rs137852481
pharmgkb	rs137852481
gwascentral	rs137852481
openSNP	rs137852481
23andMe	rs137852481
SNPshot	rs137852481
SNPdbe	rs137852481
MSV3d	rs137852481
GWAS Ctlg	rs137852481

Max Magnitude

0

OMIM	308000
Desc
Variant	0008
Related	also

ClinVar
Risk	rs137852481(A;A)
Alt	rs137852481(A;A)
Reference	Rs137852481(C;C)
Significance	Other
Disease	Lesch-Nyhan syndrome HPRT FLINT
Variation	info
Gene	HPRT1
CLNDBN	Lesch-Nyhan syndrome HPRT FLINT
Reversed	0
HGVS	NC_000023.10:g.133609298C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010726.2, RCV000010727.1,