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rs80338676

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80338676(C;C)
Make rs80338676(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position107642415
GenePRPS1
is asnp
is mentioned by
dbSNPrs80338676
ebirs80338676
HLIrs80338676
Exacrs80338676
Varsomers80338676
Maprs80338676
PheGenIrs80338676
hapmaprs80338676
1000 genomesrs80338676
hgdprs80338676
ensemblrs80338676
gopubmedrs80338676
geneviewrs80338676
scholarrs80338676
googlers80338676
pharmgkbrs80338676
gwascentralrs80338676
openSNPrs80338676
23andMers80338676
23andMe allrs80338676
SNP Nexus

SNPshotrs80338676
SNPdbers80338676
MSV3drs80338676
GWAS Ctlgrs80338676
Max Magnitude0
OMIM311850
Desc
Variant0011
Relatedalso
ClinVar
Risk rs80338676(C;C)
Alt rs80338676(C;C)
Reference rs80338676(T;T)
Significance Pathogenic
Disease Arts syndrome not provided
Variation info
Gene PRPS1
CLNDBN Arts syndrome not provided
Reversed 0
HGVS NC_000023.10:g.106885645T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000010614.2, RCV000178182.1,


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