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rs80356547

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80356547(C;T)
Make rs80356547(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position47206103
GeneINE1, UBA1
is asnp
is mentioned by
dbSNPrs80356547
ebirs80356547
HLIrs80356547
Exacrs80356547
Varsomers80356547
Maprs80356547
PheGenIrs80356547
hapmaprs80356547
1000 genomesrs80356547
hgdprs80356547
ensemblrs80356547
gopubmedrs80356547
geneviewrs80356547
scholarrs80356547
googlers80356547
pharmgkbrs80356547
gwascentralrs80356547
openSNPrs80356547
23andMers80356547
23andMe allrs80356547
SNP Nexus

SNPshotrs80356547
SNPdbers80356547
MSV3drs80356547
GWAS Ctlgrs80356547
Max Magnitude0
OMIM314370
Desc
Variant0003
Relatedalso
ClinVar
Risk rs80356547(T;T)
Alt rs80356547(T;T)
Reference rs80356547(C;C)
Significance Pathogenic
Disease Arthrogryposis multiplex congenita
Variation info
Gene UBA1 INE1
CLNDBN Arthrogryposis multiplex congenita, distal, X-linked
Reversed 0
HGVS NC_000023.10:g.47065502C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010436.2,


[PMID 18179898OA-icon.png] Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy.