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rs80338675

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80338675(A;C)
Make rs80338675(C;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position107640993
GenePRPS1
is asnp
is mentioned by
dbSNPrs80338675
ebirs80338675
HLIrs80338675
Exacrs80338675
Varsomers80338675
Maprs80338675
PheGenIrs80338675
hapmaprs80338675
1000 genomesrs80338675
hgdprs80338675
ensemblrs80338675
gopubmedrs80338675
geneviewrs80338675
scholarrs80338675
googlers80338675
pharmgkbrs80338675
gwascentralrs80338675
openSNPrs80338675
23andMers80338675
23andMe allrs80338675
SNP Nexus

SNPshotrs80338675
SNPdbers80338675
MSV3drs80338675
GWAS Ctlgrs80338675
Max Magnitude0
OMIM311850
Desc
Variant0012
Relatedalso
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
CLNACC RCV000010615.3,


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