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rs367543019

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs367543019(-;-)
Make rs367543019(-;A)
Make rs367543019(A;A)
ReferenceGRCh38 38.1/141
Chromosome15
Position90769519
GeneBLM
is asnp
is mentioned by
dbSNPrs367543019
ebirs367543019
HLIrs367543019
Exacrs367543019
Varsomers367543019
Maprs367543019
PheGenIrs367543019
hapmaprs367543019
1000 genomesrs367543019
hgdprs367543019
ensemblrs367543019
gopubmedrs367543019
geneviewrs367543019
scholarrs367543019
googlers367543019
pharmgkbrs367543019
gwascentralrs367543019
openSNPrs367543019
23andMers367543019
23andMe allrs367543019
SNP Nexus

SNPshotrs367543019
SNPdbers367543019
MSV3drs367543019
GWAS Ctlgrs367543019
Max Magnitude0
ClinVar
Risk rs367543019(A;A)
Alt rs367543019(A;A)
Reference rs367543019(;)
Significance Pathogenic
Disease Bloom syndrome
Variation info
Gene BLM
CLNDBN Bloom syndrome
Reversed 0
HGVS NC_000015.9:g.91312749dupA
CLNSRC ClinVar GeneReviews
CLNACC RCV000035005.1,