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rs367543020

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs367543020(-;-)
Make rs367543020(-;A)
ReferenceGRCh38 38.1/141
Chromosome15
Position90804289
GeneBLM
is asnp
is mentioned by
dbSNPrs367543020
dbSNP (classic)rs367543020
ClinGenrs367543020
ebirs367543020
HLIrs367543020
Exacrs367543020
Gnomadrs367543020
Varsomers367543020
LitVarrs367543020
Maprs367543020
PheGenIrs367543020
Biobankrs367543020
1000 genomesrs367543020
hgdprs367543020
ensemblrs367543020
geneviewrs367543020
scholarrs367543020
googlers367543020
pharmgkbrs367543020
gwascentralrs367543020
openSNPrs367543020
23andMers367543020
SNPshotrs367543020
SNPdbers367543020
MSV3drs367543020
GWAS Ctlgrs367543020
Max Magnitude0
ClinVar
Risk rs367543020(-;-)
Alt rs367543020(-;-)
Reference Rs367543020(A;A)
Significance Pathogenic
Disease Bloom syndrome
Variation info
Gene BLM
CLNDBN Bloom syndrome
Reversed 0
HGVS NC_000015.9:g.91347519delA
CLNSRC ClinVar GeneReviews
CLNACC RCV000034913.1,