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rs1057517359

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517359(-;CTTA)
Make rs1057517359(CTTA;CTTA)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position90754857
GeneBLM
is asnp
is mentioned by
dbSNPrs1057517359
dbSNP (old)rs1057517359
ClinGenrs1057517359
ebirs1057517359
HLIrs1057517359
Exacrs1057517359
Gnomadrs1057517359
Varsomers1057517359
Maprs1057517359
PheGenIrs1057517359
Biobankrs1057517359
1000 genomesrs1057517359
hgdprs1057517359
ensemblrs1057517359
gopubmedrs1057517359
geneviewrs1057517359
scholarrs1057517359
googlers1057517359
pharmgkbrs1057517359
gwascentralrs1057517359
openSNPrs1057517359
23andMers1057517359
23andMe allrs1057517359
SNPshotrs1057517359
SNPdbers1057517359
MSV3drs1057517359
GWAS Ctlgrs1057517359
Max Magnitude0
ClinVar
Risk rs1057517359(CTTA;CTTA)
Alt rs1057517359(CTTA;CTTA)
Reference Rs1057517359(-;-)
Significance Probable-Pathogenic
Disease Bloom syndrome
Variation info
Gene BLM
CLNDBN Bloom syndrome
Reversed 0
HGVS NC_000015.9:g.91298084_91298087dupCTTA
CLNSRC
CLNACC RCV000410940.1,