rs137852498

Orientation

plus

Stabilized

plus

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

Make rs137852498(C;T)

Make rs137852498(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

134498407

Gene

HPRT1

is a	snp
is	mentioned by
dbSNP	rs137852498
dbSNP (classic)	rs137852498
ClinGen	rs137852498
ebi	rs137852498
HLI	rs137852498
Exac	rs137852498
Gnomad	rs137852498
Varsome	rs137852498
LitVar	rs137852498
Map	rs137852498
PheGenI	rs137852498
Biobank	rs137852498
1000 genomes	rs137852498
hgdp	rs137852498
ensembl	rs137852498
geneview	rs137852498
scholar	rs137852498
google	rs137852498
pharmgkb	rs137852498
gwascentral	rs137852498
openSNP	rs137852498
23andMe	rs137852498
SNPshot	rs137852498
SNPdbe	rs137852498
MSV3d	rs137852498
GWAS Ctlg	rs137852498

Max Magnitude

0

OMIM	308000
Desc
Variant	0048
Related	also

ClinVar
Risk	rs137852498(T;T)
Alt	rs137852498(T;T)
Reference	Rs137852498(C;C)
Significance	Pathogenic
Disease	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
Variation	info
Gene	HPRT1
CLNDBN	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
Reversed	0
HGVS	NC_000023.10:g.133632437C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010776.4,