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rs137853152

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853152(C;T)
Make rs137853152(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position90769559
GeneBLM
is asnp
is mentioned by
dbSNPrs137853152
ebirs137853152
HLIrs137853152
Exacrs137853152
Varsomers137853152
Maprs137853152
PheGenIrs137853152
hapmaprs137853152
1000 genomesrs137853152
hgdprs137853152
ensemblrs137853152
gopubmedrs137853152
geneviewrs137853152
scholarrs137853152
googlers137853152
pharmgkbrs137853152
gwascentralrs137853152
openSNPrs137853152
23andMers137853152
23andMe allrs137853152
SNP Nexus

SNPshotrs137853152
SNPdbers137853152
MSV3drs137853152
GWAS Ctlgrs137853152
Max Magnitude0
OMIM604610
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137853152(T;T)
Alt rs137853152(T;T)
Reference rs137853152(C;C)
Significance Pathogenic
Disease Bloom syndrome
Variation info
Gene BLM
CLNDBN Bloom syndrome
Reversed 0
HGVS NC_000015.9:g.91312789C>T
CLNSRC GeneReviews OMIM Allelic Variant
CLNACC RCV000034895.2,