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rs200389141

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs200389141(C;T)
Make rs200389141(T;T)
ReferenceGRCh38 38.1/142
Chromosome15
Position90761015
GeneBLM
is asnp
is mentioned by
dbSNPrs200389141
ebirs200389141
HLIrs200389141
Exacrs200389141
Varsomers200389141
Maprs200389141
PheGenIrs200389141
hapmaprs200389141
1000 genomesrs200389141
hgdprs200389141
ensemblrs200389141
gopubmedrs200389141
geneviewrs200389141
scholarrs200389141
googlers200389141
pharmgkbrs200389141
gwascentralrs200389141
openSNPrs200389141
23andMers200389141
23andMe allrs200389141
SNP Nexus

SNPshotrs200389141
SNPdbers200389141
MSV3drs200389141
GWAS Ctlgrs200389141
Max Magnitude0
ClinVar
Risk rs200389141(T;T)
Alt rs200389141(T;T)
Reference rs200389141(C;C)
Significance Pathogenic
Disease not provided Bloom syndrome
Variation info
Gene BLM
CLNDBN not provided Bloom syndrome
Reversed 0
HGVS NC_000015.9:g.91304245C>T
CLNSRC ClinVar GeneDx
CLNACC RCV000115284.2, RCV000144577.1,