Have questions? Visit https://www.reddit.com/r/SNPedia

rs80356546

De SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80356546(A;G)
Make rs80356546(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position47206011
GeneINE1, UBA1
is asnp
is mentioned by
dbSNPrs80356546
ebirs80356546
HLIrs80356546
Exacrs80356546
Varsomers80356546
Maprs80356546
PheGenIrs80356546
hapmaprs80356546
1000 genomesrs80356546
hgdprs80356546
ensemblrs80356546
gopubmedrs80356546
geneviewrs80356546
scholarrs80356546
googlers80356546
pharmgkbrs80356546
gwascentralrs80356546
openSNPrs80356546
23andMers80356546
23andMe allrs80356546
SNP Nexus

SNPshotrs80356546
SNPdbers80356546
MSV3drs80356546
GWAS Ctlgrs80356546
Max Magnitude0
OMIM314370
Desc
Variant0002
Relatedalso
ClinVar
Risk rs80356546(G;G)
Alt rs80356546(G;G)
Reference rs80356546(A;A)
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.47065410A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000010435.4,


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