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rs1057517013

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AT;AT) 0 common in clinvar
Make rs1057517013(-;-)
Make rs1057517013(-;TA)
Make rs1057517013(TA;TA)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position90760852
GeneBLM
is asnp
is mentioned by
dbSNPrs1057517013
dbSNP (old)rs1057517013
ClinGenrs1057517013
ebirs1057517013
HLIrs1057517013
Exacrs1057517013
Gnomadrs1057517013
Varsomers1057517013
LitVarrs1057517013
Maprs1057517013
PheGenIrs1057517013
Biobankrs1057517013
1000 genomesrs1057517013
hgdprs1057517013
ensemblrs1057517013
gopubmedrs1057517013
geneviewrs1057517013
scholarrs1057517013
googlers1057517013
pharmgkbrs1057517013
gwascentralrs1057517013
openSNPrs1057517013
23andMers1057517013
23andMe allrs1057517013
SNPshotrs1057517013
SNPdbers1057517013
MSV3drs1057517013
GWAS Ctlgrs1057517013
Max Magnitude0
ClinVar
Risk rs1057517013(-;-)
Alt rs1057517013(-;-)
Reference Rs1057517013(AT;AT)
Significance Probable-Pathogenic
Disease Bloom syndrome
Variation info
Gene BLM
CLNDBN Bloom syndrome
Reversed 0
HGVS NC_000015.9:g.91304082_91304083delTA
CLNSRC
CLNACC RCV000409376.1,