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

rs137853153

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 carrier of likely Bloom syndrome allele
(T;T) 4 Bloom syndrome; homozygote for mutation
ReferenceGRCh38 38.1/141
Chromosome15
Position90794254
GeneBLM
is asnp
is mentioned by
dbSNPrs137853153
ebirs137853153
HLIrs137853153
Exacrs137853153
Varsomers137853153
Maprs137853153
PheGenIrs137853153
hapmaprs137853153
1000 genomesrs137853153
hgdprs137853153
ensemblrs137853153
gopubmedrs137853153
geneviewrs137853153
scholarrs137853153
googlers137853153
pharmgkbrs137853153
gwascentralrs137853153
openSNPrs137853153
23andMers137853153
23andMe allrs137853153
SNP Nexus

SNPshotrs137853153
SNPdbers137853153
MSV3drs137853153
GWAS Ctlgrs137853153
Max Magnitude4
OMIM604610
Desc
Variant0004
Relatedalso
ClinVar
Risk rs137853153(T;T)
Alt rs137853153(T;T)
Reference rs137853153(G;G)
Significance Pathogenic
Disease Bloom syndrome
Variation info
Gene BLM
CLNDBN Bloom syndrome
Reversed 0
HGVS NC_000015.9:g.91337484G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005790.3,