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rs367543023

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs367543023(C;T)
Make rs367543023(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position90790712
GeneBLM
is asnp
is mentioned by
dbSNPrs367543023
dbSNP (classic)rs367543023
ClinGenrs367543023
ebirs367543023
HLIrs367543023
Exacrs367543023
Gnomadrs367543023
Varsomers367543023
LitVarrs367543023
Maprs367543023
PheGenIrs367543023
Biobankrs367543023
1000 genomesrs367543023
hgdprs367543023
ensemblrs367543023
geneviewrs367543023
scholarrs367543023
googlers367543023
pharmgkbrs367543023
gwascentralrs367543023
openSNPrs367543023
23andMers367543023
SNPshotrs367543023
SNPdbers367543023
MSV3drs367543023
GWAS Ctlgrs367543023
Max Magnitude0
ClinVar
Risk rs367543023(T;T)
Alt rs367543023(T;T)
Reference Rs367543023(C;C)
Significance Pathogenic
Disease Bloom syndrome
Variation info
Gene BLM
CLNDBN Bloom syndrome
Reversed 0
HGVS NC_000015.9:g.91333942C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000034901.1,