rs137852499

Orientation

plus

Stabilized

plus

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

Make rs137852499(A;A)

Make rs137852499(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

134473377

Gene

HPRT1

is a	snp
is	mentioned by
dbSNP	rs137852499
dbSNP (classic)	rs137852499
ClinGen	rs137852499
ebi	rs137852499
HLI	rs137852499
Exac	rs137852499
Gnomad	rs137852499
Varsome	rs137852499
LitVar	rs137852499
Map	rs137852499
PheGenI	rs137852499
Biobank	rs137852499
1000 genomes	rs137852499
hgdp	rs137852499
ensembl	rs137852499
geneview	rs137852499
scholar	rs137852499
google	rs137852499
pharmgkb	rs137852499
gwascentral	rs137852499
openSNP	rs137852499
23andMe	rs137852499
SNPshot	rs137852499
SNPdbe	rs137852499
MSV3d	rs137852499
GWAS Ctlg	rs137852499

Max Magnitude

0

OMIM	308000
Desc
Variant	0049
Related	also

ClinVar
Risk	rs137852499(A;A)
Alt	rs137852499(A;A)
Reference	Rs137852499(G;G)
Significance	Other
Disease	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency HPRT URANGAN
Variation	info
Gene	HPRT1
CLNDBN	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency HPRT URANGAN
Reversed	0
HGVS	NC_000023.10:g.133607407G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010777.4, RCV000010778.1,