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rs1057516253

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(AT;AT) 0 common in clinvar
Make rs1057516253(-;-)
Make rs1057516253(-;AT)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position90798284
GeneBLM
is asnp
is mentioned by
dbSNPrs1057516253
dbSNP (old)rs1057516253
ClinGenrs1057516253
ebirs1057516253
HLIrs1057516253
Exacrs1057516253
Gnomadrs1057516253
Varsomers1057516253
Maprs1057516253
PheGenIrs1057516253
Biobankrs1057516253
1000 genomesrs1057516253
hgdprs1057516253
ensemblrs1057516253
gopubmedrs1057516253
geneviewrs1057516253
scholarrs1057516253
googlers1057516253
pharmgkbrs1057516253
gwascentralrs1057516253
openSNPrs1057516253
23andMers1057516253
23andMe allrs1057516253
SNPshotrs1057516253
SNPdbers1057516253
MSV3drs1057516253
GWAS Ctlgrs1057516253
Max Magnitude0
ClinVar
Risk rs1057516253(-;-)
Alt rs1057516253(-;-)
Reference Rs1057516253(AT;AT)
Significance Probable-Pathogenic
Disease Bloom syndrome
Variation info
Gene BLM
CLNDBN Bloom syndrome
Reversed 0
HGVS NC_000015.9:g.91341514_91341515delAT
CLNSRC
CLNACC RCV000411218.1,