rs387906725

Orientation

plus

Stabilized

plus

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

Make rs387906725(A;A)

Make rs387906725(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

134475189

Gene

HPRT1

is a	snp
is	mentioned by
dbSNP	rs387906725
dbSNP (classic)	rs387906725
ClinGen	rs387906725
ebi	rs387906725
HLI	rs387906725
Exac	rs387906725
Gnomad	rs387906725
Varsome	rs387906725
LitVar	rs387906725
Map	rs387906725
PheGenI	rs387906725
Biobank	rs387906725
1000 genomes	rs387906725
hgdp	rs387906725
ensembl	rs387906725
geneview	rs387906725
scholar	rs387906725
google	rs387906725
pharmgkb	rs387906725
gwascentral	rs387906725
openSNP	rs387906725
23andMe	rs387906725
SNPshot	rs387906725
SNPdbe	rs387906725
MSV3d	rs387906725
GWAS Ctlg	rs387906725

Max Magnitude

0

ClinVar
Risk	rs387906725(A;A)
Alt	rs387906725(A;A)
Reference	Rs387906725(G;G)
Significance	Pathogenic
Disease	Lesch-nyhan syndrome Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
Variation	info
Gene	HPRT1
CLNDBN	Lesch-nyhan syndrome, neurologic variant Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
Reversed	0
HGVS	NC_000023.10:g.133609219G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000022877.3, RCV000022878.3,