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rs367543012

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;T) 3 carrier for Bloom syndrome mutation
(T;T) 6.6 Bloom syndrome; homozygote for mutation
ReferenceGRCh38 38.1/141
Chromosome15
Position90769438
GeneBLM
is asnp
is mentioned by
dbSNPrs367543012
dbSNP (classic)rs367543012
ClinGenrs367543012
ebirs367543012
HLIrs367543012
Exacrs367543012
Gnomadrs367543012
Varsomers367543012
LitVarrs367543012
Maprs367543012
PheGenIrs367543012
Biobankrs367543012
1000 genomesrs367543012
hgdprs367543012
ensemblrs367543012
geneviewrs367543012
scholarrs367543012
googlers367543012
pharmgkbrs367543012
gwascentralrs367543012
openSNPrs367543012
23andMers367543012
SNPshotrs367543012
SNPdbers367543012
MSV3drs367543012
GWAS Ctlgrs367543012
Max Magnitude6.6

BLM c.2407insT

ClinVar
Risk Rs367543012(T;T)
Alt Rs367543012(T;T)
Reference Rs367543012(-;-)
Significance Pathogenic
Disease Bloom syndrome
Variation info
Gene BLM
CLNDBN Bloom syndrome
Reversed 0
HGVS NC_000015.9:g.91312668dupT
CLNSRC ClinVar GeneReviews
CLNACC RCV000035004.2,


[PMID 9837821OA-icon.png] The Ashkenazic Jewish Bloom syndrome mutation blmAsh is present in non-Jewish Americans of Spanish ancestry.


[PMID 17407155] Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry.