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rs367543028

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs367543028(C;T)
Make rs367543028(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position90765319
GeneBLM
is asnp
is mentioned by
dbSNPrs367543028
dbSNP (classic)rs367543028
ClinGenrs367543028
ebirs367543028
HLIrs367543028
Exacrs367543028
Gnomadrs367543028
Varsomers367543028
LitVarrs367543028
Maprs367543028
PheGenIrs367543028
Biobankrs367543028
1000 genomesrs367543028
hgdprs367543028
ensemblrs367543028
geneviewrs367543028
scholarrs367543028
googlers367543028
pharmgkbrs367543028
gwascentralrs367543028
openSNPrs367543028
23andMers367543028
SNPshotrs367543028
SNPdbers367543028
MSV3drs367543028
GWAS Ctlgrs367543028
Max Magnitude0
ClinVar
Risk rs367543028(T;T)
Alt rs367543028(T;T)
Reference Rs367543028(C;C)
Significance Pathogenic
Disease Bloom syndrome not provided
Variation info
Gene BLM
CLNDBN Bloom syndrome not provided
Reversed 0
HGVS NC_000015.9:g.91308549C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000034893.1, RCV000317685.1,