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rs1057516964

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516964(A;A)
Make rs1057516964(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position90760657
GeneBLM
is asnp
is mentioned by
dbSNPrs1057516964
dbSNP (old)rs1057516964
ClinGenrs1057516964
ebirs1057516964
HLIrs1057516964
Exacrs1057516964
Gnomadrs1057516964
Varsomers1057516964
Maprs1057516964
PheGenIrs1057516964
Biobankrs1057516964
1000 genomesrs1057516964
hgdprs1057516964
ensemblrs1057516964
gopubmedrs1057516964
geneviewrs1057516964
scholarrs1057516964
googlers1057516964
pharmgkbrs1057516964
gwascentralrs1057516964
openSNPrs1057516964
23andMers1057516964
23andMe allrs1057516964
SNPshotrs1057516964
SNPdbers1057516964
MSV3drs1057516964
GWAS Ctlgrs1057516964
Max Magnitude0
ClinVar
Risk rs1057516964(A;A)
Alt rs1057516964(A;A)
Reference Rs1057516964(G;G)
Significance Probable-Pathogenic
Disease Bloom syndrome
Variation info
Gene BLM
CLNDBN Bloom syndrome
Reversed 0
HGVS NC_000015.9:g.91303887G>A
CLNSRC
CLNACC RCV000410691.1,