rs398123240

Orientation

plus

Stabilized

plus

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

Make rs398123240(A;A)

Make rs398123240(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

134486531

Gene

HPRT1

is a	snp
is	mentioned by
dbSNP	rs398123240
dbSNP (classic)	rs398123240
ClinGen	rs398123240
ebi	rs398123240
HLI	rs398123240
Exac	rs398123240
Gnomad	rs398123240
Varsome	rs398123240
LitVar	rs398123240
Map	rs398123240
PheGenI	rs398123240
Biobank	rs398123240
1000 genomes	rs398123240
hgdp	rs398123240
ensembl	rs398123240
geneview	rs398123240
scholar	rs398123240
google	rs398123240
pharmgkb	rs398123240
gwascentral	rs398123240
openSNP	rs398123240
23andMe	rs398123240
SNPshot	rs398123240
SNPdbe	rs398123240
MSV3d	rs398123240
GWAS Ctlg	rs398123240

Max Magnitude

0

ClinVar
Risk	rs398123240(A;A)
Alt	rs398123240(A;A)
Reference	Rs398123240(G;G)
Significance	Pathogenic
Disease	not provided Lesch-Nyhan syndrome
Variation	info
Gene	HPRT1
CLNDBN	not provided Lesch-Nyhan syndrome
Reversed	0
HGVS	NC_000023.10:g.133620561G>A
CLNSRC	HGMD
CLNACC	RCV000078344.4, RCV000344145.1,