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rs1057516728

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516728(A;A)
Make rs1057516728(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position90809240
GeneBLM
is asnp
is mentioned by
dbSNPrs1057516728
dbSNP (old)rs1057516728
ClinGenrs1057516728
ebirs1057516728
HLIrs1057516728
Exacrs1057516728
Gnomadrs1057516728
Varsomers1057516728
Maprs1057516728
PheGenIrs1057516728
Biobankrs1057516728
1000 genomesrs1057516728
hgdprs1057516728
ensemblrs1057516728
gopubmedrs1057516728
geneviewrs1057516728
scholarrs1057516728
googlers1057516728
pharmgkbrs1057516728
gwascentralrs1057516728
openSNPrs1057516728
23andMers1057516728
23andMe allrs1057516728
SNPshotrs1057516728
SNPdbers1057516728
MSV3drs1057516728
GWAS Ctlgrs1057516728
Max Magnitude0
ClinVar
Risk rs1057516728(A;A)
Alt rs1057516728(A;A)
Reference Rs1057516728(C;C)
Significance Probable-Pathogenic
Disease Bloom syndrome
Variation info
Gene BLM
CLNDBN Bloom syndrome
Reversed 0
HGVS NC_000015.9:g.91352470C>A
CLNSRC
CLNACC RCV000409908.1,