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rs1057517030

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(TG;TG) 0 common in clinvar
Make rs1057517030(-;-)
Make rs1057517030(-;TG)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position90754934
GeneBLM
is asnp
is mentioned by
dbSNPrs1057517030
dbSNP (old)rs1057517030
ClinGenrs1057517030
ebirs1057517030
HLIrs1057517030
Exacrs1057517030
Gnomadrs1057517030
Varsomers1057517030
Maprs1057517030
PheGenIrs1057517030
Biobankrs1057517030
1000 genomesrs1057517030
hgdprs1057517030
ensemblrs1057517030
gopubmedrs1057517030
geneviewrs1057517030
scholarrs1057517030
googlers1057517030
pharmgkbrs1057517030
gwascentralrs1057517030
openSNPrs1057517030
23andMers1057517030
23andMe allrs1057517030
SNPshotrs1057517030
SNPdbers1057517030
MSV3drs1057517030
GWAS Ctlgrs1057517030
Max Magnitude0
ClinVar
Risk rs1057517030(-;-)
Alt rs1057517030(-;-)
Reference Rs1057517030(TG;TG)
Significance Probable-Pathogenic
Disease Bloom syndrome
Variation info
Gene BLM
CLNDBN Bloom syndrome
Reversed 0
HGVS NC_000015.9:g.91298164_91298165delTG
CLNSRC
CLNACC RCV000412101.1,