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rs119477054

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs119477054(A;G)
Make rs119477054(G;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position43082648
GeneUBR1
is asnp
is mentioned by
dbSNPrs119477054
ebirs119477054
HLIrs119477054
Exacrs119477054
Varsomers119477054
Maprs119477054
PheGenIrs119477054
hapmaprs119477054
1000 genomesrs119477054
hgdprs119477054
ensemblrs119477054
gopubmedrs119477054
geneviewrs119477054
scholarrs119477054
googlers119477054
pharmgkbrs119477054
gwascentralrs119477054
openSNPrs119477054
23andMers119477054
23andMe allrs119477054
SNP Nexus

SNPshotrs119477054
SNPdbers119477054
MSV3drs119477054
GWAS Ctlgrs119477054
Max Magnitude0
OMIM605981
Desc
Variant0001
Relatedalso
ClinVar
Risk rs119477054(G;G)
Alt rs119477054(G;G)
Reference rs119477054(A;A)
Significance Pathogenic
Disease Johanson-Blizzard syndrome
Variation info
Gene UBR1
CLNDBN Johanson-Blizzard syndrome
Reversed 1
HGVS NC_000015.9:g.43374846T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004942.2,