rs80338675

Orientation

plus

Stabilized

plus

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

Make rs80338675(A;C)

Make rs80338675(C;C)

Reference

GRCh38 38.1/141

Chromosome

X

Position

107640993

Gene

PRPS1

is a	snp
is	mentioned by
dbSNP	rs80338675
dbSNP (classic)	rs80338675
ClinGen	rs80338675
ebi	rs80338675
HLI	rs80338675
Exac	rs80338675
Gnomad	rs80338675
Varsome	rs80338675
LitVar	rs80338675
Map	rs80338675
PheGenI	rs80338675
Biobank	rs80338675
1000 genomes	rs80338675
hgdp	rs80338675
ensembl	rs80338675
geneview	rs80338675
scholar	rs80338675
google	rs80338675
pharmgkb	rs80338675
gwascentral	rs80338675
openSNP	rs80338675
23andMe	rs80338675
SNPshot	rs80338675
SNPdbe	rs80338675
MSV3d	rs80338675
GWAS Ctlg	rs80338675

Max Magnitude

0

OMIM	311850
Desc
Variant	0012
Related	also

ClinVar
Risk	rs80338675(C;C)
Alt	rs80338675(C;C)
Reference	Rs80338675(A;A)
Significance	Pathogenic
Disease	Arts syndrome
Variation	info
Gene	PRPS1
CLNDBN	Arts syndrome
Reversed	0
HGVS	NC_000023.10:g.106884223A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010615.4,

[PMID 17701896] Arts syndrome is caused by loss-of-function mutations in PRPS1.