rs137852540

Orientation

plus

Stabilized

plus

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

Make rs137852540(A;G)

Make rs137852540(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

107640936

Gene

PRPS1

is a	snp
is	mentioned by
dbSNP	rs137852540
dbSNP (classic)	rs137852540
ClinGen	rs137852540
ebi	rs137852540
HLI	rs137852540
Exac	rs137852540
Gnomad	rs137852540
Varsome	rs137852540
LitVar	rs137852540
Map	rs137852540
PheGenI	rs137852540
Biobank	rs137852540
1000 genomes	rs137852540
hgdp	rs137852540
ensembl	rs137852540
geneview	rs137852540
scholar	rs137852540
google	rs137852540
pharmgkb	rs137852540
gwascentral	rs137852540
openSNP	rs137852540
23andMe	rs137852540
SNPshot	rs137852540
SNPdbe	rs137852540
MSV3d	rs137852540
GWAS Ctlg	rs137852540

Max Magnitude

0

OMIM	311850
Desc
Variant	0001
Related	also

ClinVar
Risk	rs137852540(G;G)
Alt	rs137852540(G;G)
Reference	Rs137852540(A;A)
Significance	Pathogenic
Disease	Phosphoribosylpyrophosphate synthetase superactivity
Variation	info
Gene	PRPS1
CLNDBN	Phosphoribosylpyrophosphate synthetase superactivity
Reversed	0
HGVS	NC_000023.10:g.106884166A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010606.5,