Have questions? Visit https://www.reddit.com/r/SNPedia

rs367543014

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs367543014(-;-)
Make rs367543014(-;C)
ReferenceGRCh38 38.1/141
Chromosome15
Position90790748
GeneBLM
is asnp
is mentioned by
dbSNPrs367543014
dbSNP (classic)rs367543014
ClinGenrs367543014
ebirs367543014
HLIrs367543014
Exacrs367543014
Gnomadrs367543014
Varsomers367543014
LitVarrs367543014
Maprs367543014
PheGenIrs367543014
Biobankrs367543014
1000 genomesrs367543014
hgdprs367543014
ensemblrs367543014
geneviewrs367543014
scholarrs367543014
googlers367543014
pharmgkbrs367543014
gwascentralrs367543014
openSNPrs367543014
23andMers367543014
SNPshotrs367543014
SNPdbers367543014
MSV3drs367543014
GWAS Ctlgrs367543014
Max Magnitude0
ClinVar
Risk rs367543014(-;-)
Alt rs367543014(-;-)
Reference Rs367543014(C;C)
Significance Pathogenic
Disease Bloom syndrome not provided
Variation info
Gene BLM
CLNDBN Bloom syndrome not provided
Reversed 0
HGVS NC_000015.9:g.91333978delC
CLNSRC ClinVar GeneDx GeneReviews
CLNACC RCV000034902.2, RCV000115301.3,