rs137852543

Orientation

plus

Stabilized

plus

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

Make rs137852543(A;A)

Make rs137852543(A;C)

Reference

GRCh38 38.1/141

Chromosome

X

Position

107640980

Gene

PRPS1

is a	snp
is	mentioned by
dbSNP	rs137852543
dbSNP (classic)	rs137852543
ClinGen	rs137852543
ebi	rs137852543
HLI	rs137852543
Exac	rs137852543
Gnomad	rs137852543
Varsome	rs137852543
LitVar	rs137852543
Map	rs137852543
PheGenI	rs137852543
Biobank	rs137852543
1000 genomes	rs137852543
hgdp	rs137852543
ensembl	rs137852543
geneview	rs137852543
scholar	rs137852543
google	rs137852543
pharmgkb	rs137852543
gwascentral	rs137852543
openSNP	rs137852543
23andMe	rs137852543
SNPshot	rs137852543
SNPdbe	rs137852543
MSV3d	rs137852543
GWAS Ctlg	rs137852543

Max Magnitude

0

OMIM	311850
Desc
Variant	0005
Related	also

ClinVar
Risk	rs137852543(A;A)
Alt	rs137852543(A;A)
Reference	Rs137852543(C;C)
Significance	Pathogenic
Disease	Phosphoribosylpyrophosphate synthetase superactivity
Variation	info
Gene	PRPS1
CLNDBN	Phosphoribosylpyrophosphate synthetase superactivity
Reversed	0
HGVS	NC_000023.10:g.106884210C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010609.4,