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rs1057516547

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516547(-;-)
Make rs1057516547(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position90804246
GeneBLM
is asnp
is mentioned by
dbSNPrs1057516547
dbSNP (old)rs1057516547
ClinGenrs1057516547
ebirs1057516547
HLIrs1057516547
Exacrs1057516547
Gnomadrs1057516547
Varsomers1057516547
Maprs1057516547
PheGenIrs1057516547
Biobankrs1057516547
1000 genomesrs1057516547
hgdprs1057516547
ensemblrs1057516547
gopubmedrs1057516547
geneviewrs1057516547
scholarrs1057516547
googlers1057516547
pharmgkbrs1057516547
gwascentralrs1057516547
openSNPrs1057516547
23andMers1057516547
23andMe allrs1057516547
SNPshotrs1057516547
SNPdbers1057516547
MSV3drs1057516547
GWAS Ctlgrs1057516547
Max Magnitude0
ClinVar
Risk rs1057516547(-;-)
Alt rs1057516547(-;-)
Reference Rs1057516547(A;A)
Significance Probable-Pathogenic
Disease Bloom syndrome
Variation info
Gene BLM
CLNDBN Bloom syndrome
Reversed 0
HGVS NC_000015.9:g.91347476delA
CLNSRC
CLNACC RCV000412256.1,