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rs797045112

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs797045112(A;A)
Make rs797045112(A;T)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position42983940
GeneUBR1
is asnp
is mentioned by
dbSNPrs797045112
ebirs797045112
HLIrs797045112
Exacrs797045112
Varsomers797045112
Maprs797045112
PheGenIrs797045112
hapmaprs797045112
1000 genomesrs797045112
hgdprs797045112
ensemblrs797045112
gopubmedrs797045112
geneviewrs797045112
scholarrs797045112
googlers797045112
pharmgkbrs797045112
gwascentralrs797045112
openSNPrs797045112
23andMers797045112
23andMe allrs797045112
SNP Nexus

SNPshotrs797045112
SNPdbers797045112
MSV3drs797045112
GWAS Ctlgrs797045112
Max Magnitude0
ClinVar
Risk rs797045112(A;A)
Alt rs797045112(A;A)
Reference rs797045112(T;T)
Significance Pathogenic
Disease Johanson-Blizzard syndrome
Variation info
Gene UBR1
CLNDBN Johanson-Blizzard syndrome
Reversed 1
HGVS NC_000015.9:g.43276138A>T
CLNSRC
CLNACC RCV000190636.1,