rs137852542

Orientation

plus

Stabilized

plus

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

Make rs137852542(C;C)

Make rs137852542(C;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

107639326

Gene

PRPS1

is a	snp
is	mentioned by
dbSNP	rs137852542
dbSNP (classic)	rs137852542
ClinGen	rs137852542
ebi	rs137852542
HLI	rs137852542
Exac	rs137852542
Gnomad	rs137852542
Varsome	rs137852542
LitVar	rs137852542
Map	rs137852542
PheGenI	rs137852542
Biobank	rs137852542
1000 genomes	rs137852542
hgdp	rs137852542
ensembl	rs137852542
geneview	rs137852542
scholar	rs137852542
google	rs137852542
pharmgkb	rs137852542
gwascentral	rs137852542
openSNP	rs137852542
23andMe	rs137852542
SNPshot	rs137852542
SNPdbe	rs137852542
MSV3d	rs137852542
GWAS Ctlg	rs137852542

Max Magnitude

0

OMIM	311850
Desc
Variant	0003
Related	also

ClinVar
Risk	rs137852542(C;C)
Alt	rs137852542(C;C)
Reference	Rs137852542(G;G)
Significance	Pathogenic
Disease	Phosphoribosylpyrophosphate synthetase superactivity
Variation	info
Gene	PRPS1
CLNDBN	Phosphoribosylpyrophosphate synthetase superactivity
Reversed	0
HGVS	NC_000023.10:g.106882556G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010608.4,