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rs1057516700

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516700(C;T)
Make rs1057516700(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position90785079
GeneBLM
is asnp
is mentioned by
dbSNPrs1057516700
dbSNP (old)rs1057516700
ClinGenrs1057516700
ebirs1057516700
HLIrs1057516700
Exacrs1057516700
Gnomadrs1057516700
Varsomers1057516700
Maprs1057516700
PheGenIrs1057516700
Biobankrs1057516700
1000 genomesrs1057516700
hgdprs1057516700
ensemblrs1057516700
gopubmedrs1057516700
geneviewrs1057516700
scholarrs1057516700
googlers1057516700
pharmgkbrs1057516700
gwascentralrs1057516700
openSNPrs1057516700
23andMers1057516700
23andMe allrs1057516700
SNPshotrs1057516700
SNPdbers1057516700
MSV3drs1057516700
GWAS Ctlgrs1057516700
Max Magnitude0
ClinVar
Risk rs1057516700(T;T)
Alt rs1057516700(T;T)
Reference Rs1057516700(C;C)
Significance Probable-Pathogenic
Disease Bloom syndrome
Variation info
Gene BLM
CLNDBN Bloom syndrome
Reversed 0
HGVS NC_000015.9:g.91328309C>T
CLNSRC
CLNACC RCV000410779.1,