rs137852477

Orientation

plus

Stabilized

plus

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

Make rs137852477(G;G)

Make rs137852477(G;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

134490199

Gene

HPRT1

is a	snp
is	mentioned by
dbSNP	rs137852477
dbSNP (classic)	rs137852477
ClinGen	rs137852477
ebi	rs137852477
HLI	rs137852477
Exac	rs137852477
Gnomad	rs137852477
Varsome	rs137852477
LitVar	rs137852477
Map	rs137852477
PheGenI	rs137852477
Biobank	rs137852477
1000 genomes	rs137852477
hgdp	rs137852477
ensembl	rs137852477
geneview	rs137852477
scholar	rs137852477
google	rs137852477
pharmgkb	rs137852477
gwascentral	rs137852477
openSNP	rs137852477
23andMe	rs137852477
SNPshot	rs137852477
SNPdbe	rs137852477
MSV3d	rs137852477
GWAS Ctlg	rs137852477

Max Magnitude

0

OMIM	308000
Desc
Variant	0001
Related	also

ClinVar
Risk	rs137852477(G;G)
Alt	rs137852477(G;G)
Reference	Rs137852477(T;T)
Significance	Other
Disease	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency HPRT ANN ARBOR
Variation	info
Gene	HPRT1
CLNDBN	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency HPRT ANN ARBOR
Reversed	0
HGVS	NC_000023.10:g.133624229T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010712.2, RCV000010713.1,