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rs80356545

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356545(G;T)
Make rs80356545(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position47205989
GeneINE1, UBA1
is asnp
is mentioned by
dbSNPrs80356545
ebirs80356545
HLIrs80356545
Exacrs80356545
Varsomers80356545
Maprs80356545
PheGenIrs80356545
hapmaprs80356545
1000 genomesrs80356545
hgdprs80356545
ensemblrs80356545
gopubmedrs80356545
geneviewrs80356545
scholarrs80356545
googlers80356545
pharmgkbrs80356545
gwascentralrs80356545
openSNPrs80356545
23andMers80356545
23andMe allrs80356545
SNP Nexus

SNPshotrs80356545
SNPdbers80356545
MSV3drs80356545
GWAS Ctlgrs80356545
Max Magnitude0
OMIM314370
Desc
Variant0001
Relatedalso
ClinVar
Risk rs80356545(T;T)
Alt rs80356545(T;T)
Reference rs80356545(G;G)
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.47065388G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010434.2,


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