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rs1057517374

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AC;AC) 0 common in clinvar
Make rs1057517374(-;-)
Make rs1057517374(-;CA)
Make rs1057517374(CA;CA)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position90749566
GeneBLM
is asnp
is mentioned by
dbSNPrs1057517374
dbSNP (old)rs1057517374
ClinGenrs1057517374
ebirs1057517374
HLIrs1057517374
Exacrs1057517374
Gnomadrs1057517374
Varsomers1057517374
LitVarrs1057517374
Maprs1057517374
PheGenIrs1057517374
Biobankrs1057517374
1000 genomesrs1057517374
hgdprs1057517374
ensemblrs1057517374
gopubmedrs1057517374
geneviewrs1057517374
scholarrs1057517374
googlers1057517374
pharmgkbrs1057517374
gwascentralrs1057517374
openSNPrs1057517374
23andMers1057517374
23andMe allrs1057517374
SNPshotrs1057517374
SNPdbers1057517374
MSV3drs1057517374
GWAS Ctlgrs1057517374
Max Magnitude0
ClinVar
Risk rs1057517374(-;-)
Alt rs1057517374(-;-)
Reference Rs1057517374(AC;AC)
Significance Probable-Pathogenic
Disease Bloom syndrome
Variation info
Gene BLM
CLNDBN Bloom syndrome
Reversed 0
HGVS NC_000015.9:g.91292796_91292797delCA
CLNSRC
CLNACC RCV000411055.1,