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rs367543021

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs367543021(-;A)
Make rs367543021(A;A)
ReferenceGRCh38 38.1/141
Chromosome15
Position90804335
GeneBLM
is asnp
is mentioned by
dbSNPrs367543021
dbSNP (classic)rs367543021
ClinGenrs367543021
ebirs367543021
HLIrs367543021
Exacrs367543021
Gnomadrs367543021
Varsomers367543021
LitVarrs367543021
Maprs367543021
PheGenIrs367543021
Biobankrs367543021
1000 genomesrs367543021
hgdprs367543021
ensemblrs367543021
geneviewrs367543021
scholarrs367543021
googlers367543021
pharmgkbrs367543021
gwascentralrs367543021
openSNPrs367543021
23andMers367543021
SNPshotrs367543021
SNPdbers367543021
MSV3drs367543021
GWAS Ctlgrs367543021
Max Magnitude0
ClinVar
Risk rs367543021(A;A)
Alt rs367543021(A;A)
Reference Rs367543021(-;-)
Significance Pathogenic
Disease Bloom syndrome
Variation info
Gene BLM
CLNDBN Bloom syndrome
Reversed 0
HGVS NC_000015.9:g.91347565dupA
CLNSRC ClinVar GeneReviews
CLNACC RCV000034914.1,