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rs1057516261

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GAAAG;GAAAG) 0 common in clinvar
Make rs1057516261(-;-)
Make rs1057516261(-;AGGAA)
Make rs1057516261(AGGAA;AGGAA)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position90811330
GeneBLM
is asnp
is mentioned by
dbSNPrs1057516261
dbSNP (classic)rs1057516261
ClinGenrs1057516261
ebirs1057516261
HLIrs1057516261
Exacrs1057516261
Gnomadrs1057516261
Varsomers1057516261
LitVarrs1057516261
Maprs1057516261
PheGenIrs1057516261
Biobankrs1057516261
1000 genomesrs1057516261
hgdprs1057516261
ensemblrs1057516261
geneviewrs1057516261
scholarrs1057516261
googlers1057516261
pharmgkbrs1057516261
gwascentralrs1057516261
openSNPrs1057516261
23andMers1057516261
23andMe allrs1057516261
SNPshotrs1057516261
SNPdbers1057516261
MSV3drs1057516261
GWAS Ctlgrs1057516261
Max Magnitude0
ClinVar
Risk rs1057516261(-;-)
Alt rs1057516261(-;-)
Reference Rs1057516261(GAAAG;GAAAG)
Significance Probable-Pathogenic
Disease Bloom syndrome
Variation info
Gene BLM
CLNDBN Bloom syndrome
Reversed 0
HGVS NC_000015.9:g.91354560_91354564delAGGAA
CLNSRC
CLNACC RCV000412153.1,