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rs367543022

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs367543022(-;A)
Make rs367543022(A;A)
ReferenceGRCh38 38.1/141
Chromosome15
Position90798202
GeneBLM
is asnp
is mentioned by
dbSNPrs367543022
dbSNP (classic)rs367543022
ClinGenrs367543022
ebirs367543022
HLIrs367543022
Exacrs367543022
Gnomadrs367543022
Varsomers367543022
LitVarrs367543022
Maprs367543022
PheGenIrs367543022
Biobankrs367543022
1000 genomesrs367543022
hgdprs367543022
ensemblrs367543022
geneviewrs367543022
scholarrs367543022
googlers367543022
pharmgkbrs367543022
gwascentralrs367543022
openSNPrs367543022
23andMers367543022
SNPshotrs367543022
SNPdbers367543022
MSV3drs367543022
GWAS Ctlgrs367543022
Max Magnitude0
ClinVar
Risk rs367543022(A;A)
Alt rs367543022(A;A)
Reference Rs367543022(-;-)
Significance Pathogenic
Disease Bloom syndrome
Variation info
Gene BLM
CLNDBN Bloom syndrome
Reversed 0
HGVS NC_000015.9:g.91341432dupA
CLNSRC ClinVar GeneReviews
CLNACC RCV000034907.1,