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rs119477055

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119477055(C;T)
Make rs119477055(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position43048394
GeneUBR1
is asnp
is mentioned by
dbSNPrs119477055
ebirs119477055
HLIrs119477055
Exacrs119477055
Varsomers119477055
Maprs119477055
PheGenIrs119477055
hapmaprs119477055
1000 genomesrs119477055
hgdprs119477055
ensemblrs119477055
gopubmedrs119477055
geneviewrs119477055
scholarrs119477055
googlers119477055
pharmgkbrs119477055
gwascentralrs119477055
openSNPrs119477055
23andMers119477055
23andMe allrs119477055
SNP Nexus

SNPshotrs119477055
SNPdbers119477055
MSV3drs119477055
GWAS Ctlgrs119477055
Max Magnitude0
OMIM605981
Desc
Variant0003
Relatedalso
ClinVar
Risk rs119477055(T;T)
Alt rs119477055(T;T)
Reference rs119477055(C;C)
Significance Pathogenic
Disease Johanson-Blizzard syndrome
Variation info
Gene UBR1
CLNDBN Johanson-Blizzard syndrome
Reversed 1
HGVS NC_000015.9:g.43340592G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004944.2,