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rs367543030

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs367543030(A;A)
Make rs367543030(A;C)
ReferenceGRCh38 38.1/141
Chromosome15
Position90749579
GeneBLM
is asnp
is mentioned by
dbSNPrs367543030
ebirs367543030
HLIrs367543030
Exacrs367543030
Varsomers367543030
Maprs367543030
PheGenIrs367543030
hapmaprs367543030
1000 genomesrs367543030
hgdprs367543030
ensemblrs367543030
gopubmedrs367543030
geneviewrs367543030
scholarrs367543030
googlers367543030
pharmgkbrs367543030
gwascentralrs367543030
openSNPrs367543030
23andMers367543030
23andMe allrs367543030
SNP Nexus

SNPshotrs367543030
SNPdbers367543030
MSV3drs367543030
GWAS Ctlgrs367543030
Max Magnitude0
ClinVar
Risk rs367543030(A;A)
Alt rs367543030(A;A)
Reference rs367543030(C;C)
Significance Pathogenic
Disease Bloom syndrome
Variation info
Gene BLM
CLNDBN Bloom syndrome
Reversed 0
HGVS NC_000015.9:g.91292809C>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000034903.1,