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rs367543017

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs367543017(C;G)
Make rs367543017(G;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position90798257
GeneBLM
is asnp
is mentioned by
dbSNPrs367543017
dbSNP (classic)rs367543017
ClinGenrs367543017
ebirs367543017
HLIrs367543017
Exacrs367543017
Gnomadrs367543017
Varsomers367543017
LitVarrs367543017
Maprs367543017
PheGenIrs367543017
Biobankrs367543017
1000 genomesrs367543017
hgdprs367543017
ensemblrs367543017
geneviewrs367543017
scholarrs367543017
googlers367543017
pharmgkbrs367543017
gwascentralrs367543017
openSNPrs367543017
23andMers367543017
SNPshotrs367543017
SNPdbers367543017
MSV3drs367543017
GWAS Ctlgrs367543017
Max Magnitude0
ClinVar
Risk rs367543017(G;G) rs367543017(T;T)
Alt rs367543017(G;G) rs367543017(T;T)
Reference Rs367543017(C;C)
Significance Pathogenic
Disease Bloom syndrome not specified
Variation info
Gene BLM
CLNDBN Bloom syndrome not specified
Reversed 0
HGVS NC_000015.9:g.91341487C>G; NC_000015.9:g.91341487C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000034909.1, RCV000120229.1,