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rs1057516719

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516719(-;-)
Make rs1057516719(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position90794169
GeneBLM
is asnp
is mentioned by
dbSNPrs1057516719
dbSNP (old)rs1057516719
ClinGenrs1057516719
ebirs1057516719
HLIrs1057516719
Exacrs1057516719
Gnomadrs1057516719
Varsomers1057516719
Maprs1057516719
PheGenIrs1057516719
Biobankrs1057516719
1000 genomesrs1057516719
hgdprs1057516719
ensemblrs1057516719
gopubmedrs1057516719
geneviewrs1057516719
scholarrs1057516719
googlers1057516719
pharmgkbrs1057516719
gwascentralrs1057516719
openSNPrs1057516719
23andMers1057516719
23andMe allrs1057516719
SNPshotrs1057516719
SNPdbers1057516719
MSV3drs1057516719
GWAS Ctlgrs1057516719
Max Magnitude0
ClinVar
Risk rs1057516719(-;-)
Alt rs1057516719(-;-)
Reference Rs1057516719(G;G)
Significance Probable-Pathogenic
Disease Bloom syndrome
Variation info
Gene BLM
CLNDBN Bloom syndrome
Reversed 0
HGVS NC_000015.9:g.91337399delG
CLNSRC
CLNACC RCV000409280.1,