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rs367543034

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs367543034(G;T)
Make rs367543034(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position90790680
GeneBLM
is asnp
is mentioned by
dbSNPrs367543034
dbSNP (classic)rs367543034
ClinGenrs367543034
ebirs367543034
HLIrs367543034
Exacrs367543034
Gnomadrs367543034
Varsomers367543034
LitVarrs367543034
Maprs367543034
PheGenIrs367543034
Biobankrs367543034
1000 genomesrs367543034
hgdprs367543034
ensemblrs367543034
geneviewrs367543034
scholarrs367543034
googlers367543034
pharmgkbrs367543034
gwascentralrs367543034
openSNPrs367543034
23andMers367543034
SNPshotrs367543034
SNPdbers367543034
MSV3drs367543034
GWAS Ctlgrs367543034
Max Magnitude0
ClinVar
Risk rs367543034(T;T)
Alt rs367543034(T;T)
Reference Rs367543034(G;G)
Significance Pathogenic
Disease Bloom syndrome
Variation info
Gene BLM
CLNDBN Bloom syndrome
Reversed 0
HGVS NC_000015.9:g.91333910G>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000034900.1,