rs137852485

Orientation

plus

Stabilized

plus

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

Make rs137852485(A;A)

Make rs137852485(A;C)

Reference

GRCh38 38.1/141

Chromosome

X

Position

134475358

Gene

HPRT1

is a	snp
is	mentioned by
dbSNP	rs137852485
dbSNP (classic)	rs137852485
ClinGen	rs137852485
ebi	rs137852485
HLI	rs137852485
Exac	rs137852485
Gnomad	rs137852485
Varsome	rs137852485
LitVar	rs137852485
Map	rs137852485
PheGenI	rs137852485
Biobank	rs137852485
1000 genomes	rs137852485
hgdp	rs137852485
ensembl	rs137852485
geneview	rs137852485
scholar	rs137852485
google	rs137852485
pharmgkb	rs137852485
gwascentral	rs137852485
openSNP	rs137852485
23andMe	rs137852485
SNPshot	rs137852485
SNPdbe	rs137852485
MSV3d	rs137852485
GWAS Ctlg	rs137852485

Max Magnitude

0

OMIM	308000
Desc
Variant	0014
Related	also

ClinVar
Risk	rs137852485(A;A)
Alt	rs137852485(A;A)
Reference	Rs137852485(C;C)
Significance	Other
Disease	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency HPRT MUNICH
Variation	info
Gene	HPRT1
CLNDBN	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency HPRT MUNICH
Reversed	0
HGVS	NC_000023.10:g.133609388C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010738.2, RCV000010739.1,