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rs367543025

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs367543025(A;A)
Make rs367543025(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position90794344
GeneBLM
is asnp
is mentioned by
dbSNPrs367543025
dbSNP (classic)rs367543025
ClinGenrs367543025
ebirs367543025
HLIrs367543025
Exacrs367543025
Gnomadrs367543025
Varsomers367543025
LitVarrs367543025
Maprs367543025
PheGenIrs367543025
Biobankrs367543025
1000 genomesrs367543025
hgdprs367543025
ensemblrs367543025
geneviewrs367543025
scholarrs367543025
googlers367543025
pharmgkbrs367543025
gwascentralrs367543025
openSNPrs367543025
23andMers367543025
SNPshotrs367543025
SNPdbers367543025
MSV3drs367543025
GWAS Ctlgrs367543025
Max Magnitude0
ClinVar
Risk rs367543025(A;A)
Alt rs367543025(A;A)
Reference Rs367543025(G;G)
Significance Pathogenic
Disease Bloom syndrome
Variation info
Gene BLM
CLNDBN Bloom syndrome
Reversed 0
HGVS NC_000015.9:g.91337574G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000034906.1,