rs137852480

Orientation

plus

Stabilized

plus

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

Make rs137852480(C;C)

Make rs137852480(C;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

134473453

Gene

HPRT1

is a	snp
is	mentioned by
dbSNP	rs137852480
dbSNP (classic)	rs137852480
ClinGen	rs137852480
ebi	rs137852480
HLI	rs137852480
Exac	rs137852480
Gnomad	rs137852480
Varsome	rs137852480
LitVar	rs137852480
Map	rs137852480
PheGenI	rs137852480
Biobank	rs137852480
1000 genomes	rs137852480
hgdp	rs137852480
ensembl	rs137852480
geneview	rs137852480
scholar	rs137852480
google	rs137852480
pharmgkb	rs137852480
gwascentral	rs137852480
openSNP	rs137852480
23andMe	rs137852480
SNPshot	rs137852480
SNPdbe	rs137852480
MSV3d	rs137852480
GWAS Ctlg	rs137852480

Max Magnitude

0

OMIM	308000
Desc
Variant	0006
Related	also

ClinVar
Risk	rs137852480(C;C)
Alt	rs137852480(C;C)
Reference	Rs137852480(T;T)
Significance	Other
Disease	Lesch-Nyhan syndrome HPRT DETROIT
Variation	info
Gene	HPRT1
CLNDBN	Lesch-Nyhan syndrome HPRT DETROIT
Reversed	0
HGVS	NC_000023.10:g.133607483T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010722.2, RCV000010723.1,