rs137852541

Orientation

plus

Stabilized

plus

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

Make rs137852541(C;C)

Make rs137852541(C;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

107645193

Gene

PRPS1

is a	snp
is	mentioned by
dbSNP	rs137852541
dbSNP (classic)	rs137852541
ClinGen	rs137852541
ebi	rs137852541
HLI	rs137852541
Exac	rs137852541
Gnomad	rs137852541
Varsome	rs137852541
LitVar	rs137852541
Map	rs137852541
PheGenI	rs137852541
Biobank	rs137852541
1000 genomes	rs137852541
hgdp	rs137852541
ensembl	rs137852541
geneview	rs137852541
scholar	rs137852541
google	rs137852541
pharmgkb	rs137852541
gwascentral	rs137852541
openSNP	rs137852541
23andMe	rs137852541
SNPshot	rs137852541
SNPdbe	rs137852541
MSV3d	rs137852541
GWAS Ctlg	rs137852541

Max Magnitude

0

OMIM	311850
Desc
Variant	0002
Related	also

ClinVar
Risk	rs137852541(C;C)
Alt	rs137852541(C;C)
Reference	Rs137852541(G;G)
Significance	Pathogenic
Disease	Phosphoribosylpyrophosphate synthetase superactivity
Variation	info
Gene	PRPS1
CLNDBN	Phosphoribosylpyrophosphate synthetase superactivity
Reversed	0
HGVS	NC_000023.10:g.106888423G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010607.5,