rs137852483

Orientation

plus

Stabilized

plus

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

Make rs137852483(A;A)

Make rs137852483(A;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

134490192

Gene

HPRT1

is a	snp
is	mentioned by
dbSNP	rs137852483
dbSNP (classic)	rs137852483
ClinGen	rs137852483
ebi	rs137852483
HLI	rs137852483
Exac	rs137852483
Gnomad	rs137852483
Varsome	rs137852483
LitVar	rs137852483
Map	rs137852483
PheGenI	rs137852483
Biobank	rs137852483
1000 genomes	rs137852483
hgdp	rs137852483
ensembl	rs137852483
geneview	rs137852483
scholar	rs137852483
google	rs137852483
pharmgkb	rs137852483
gwascentral	rs137852483
openSNP	rs137852483
23andMe	rs137852483
SNPshot	rs137852483
SNPdbe	rs137852483
MSV3d	rs137852483
GWAS Ctlg	rs137852483

Max Magnitude

0

OMIM	308000
Desc
Variant	0012
Related	also

ClinVar
Risk	rs137852483(A;A)
Alt	rs137852483(A;A)
Reference	Rs137852483(T;T)
Significance	Other
Disease	Lesch-Nyhan syndrome HPRT MIDLAND
Variation	info
Gene	HPRT1
CLNDBN	Lesch-Nyhan syndrome HPRT MIDLAND
Reversed	0
HGVS	NC_000023.10:g.133624222T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010734.2, RCV000010735.1,