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rs367543035

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CAA;CAA) 0 common in clinvar
Make rs367543035(-;-)
Make rs367543035(-;CAA)
ReferenceGRCh38 38.1/141
Chromosome15
Position90749825
GeneBLM
is asnp
is mentioned by
dbSNPrs367543035
ebirs367543035
HLIrs367543035
Exacrs367543035
Varsomers367543035
Maprs367543035
PheGenIrs367543035
hapmaprs367543035
1000 genomesrs367543035
hgdprs367543035
ensemblrs367543035
gopubmedrs367543035
geneviewrs367543035
scholarrs367543035
googlers367543035
pharmgkbrs367543035
gwascentralrs367543035
openSNPrs367543035
23andMers367543035
23andMe allrs367543035
SNP Nexus

SNPshotrs367543035
SNPdbers367543035
MSV3drs367543035
GWAS Ctlgrs367543035
Max Magnitude0
ClinVar
Risk rs367543035(;)
Alt rs367543035(;)
Reference rs367543035(CAA;CAA)
Significance Pathogenic
Disease Bloom syndrome
Variation info
Gene BLM
CLNDBN Bloom syndrome
Reversed 0
HGVS NC_000015.9:g.91293055_91293057delCAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000005788.2,