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rs1057516593

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516593(C;C)
Make rs1057516593(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position90747394
GeneBLM
is asnp
is mentioned by
dbSNPrs1057516593
dbSNP (old)rs1057516593
ClinGenrs1057516593
ebirs1057516593
HLIrs1057516593
Exacrs1057516593
Gnomadrs1057516593
Varsomers1057516593
Maprs1057516593
PheGenIrs1057516593
Biobankrs1057516593
1000 genomesrs1057516593
hgdprs1057516593
ensemblrs1057516593
gopubmedrs1057516593
geneviewrs1057516593
scholarrs1057516593
googlers1057516593
pharmgkbrs1057516593
gwascentralrs1057516593
openSNPrs1057516593
23andMers1057516593
23andMe allrs1057516593
SNPshotrs1057516593
SNPdbers1057516593
MSV3drs1057516593
GWAS Ctlgrs1057516593
Max Magnitude0
ClinVar
Risk rs1057516593(C;C)
Alt rs1057516593(C;C)
Reference Rs1057516593(T;T)
Significance Probable-Pathogenic
Disease Bloom syndrome
Variation info
Gene BLM
CLNDBN Bloom syndrome
Reversed 0
HGVS NC_000015.9:g.91290624T>C
CLNSRC
CLNACC RCV000412038.1,