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rs1057516774

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516774(G;T)
Make rs1057516774(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position90803562
GeneBLM
is asnp
is mentioned by
dbSNPrs1057516774
dbSNP (old)rs1057516774
ClinGenrs1057516774
ebirs1057516774
HLIrs1057516774
Exacrs1057516774
Gnomadrs1057516774
Varsomers1057516774
Maprs1057516774
PheGenIrs1057516774
Biobankrs1057516774
1000 genomesrs1057516774
hgdprs1057516774
ensemblrs1057516774
gopubmedrs1057516774
geneviewrs1057516774
scholarrs1057516774
googlers1057516774
pharmgkbrs1057516774
gwascentralrs1057516774
openSNPrs1057516774
23andMers1057516774
23andMe allrs1057516774
SNPshotrs1057516774
SNPdbers1057516774
MSV3drs1057516774
GWAS Ctlgrs1057516774
Max Magnitude0
ClinVar
Risk rs1057516774(T;T)
Alt rs1057516774(T;T)
Reference Rs1057516774(G;G)
Significance Probable-Pathogenic
Disease Bloom syndrome
Variation info
Gene BLM
CLNDBN Bloom syndrome
Reversed 0
HGVS NC_000015.9:g.91346792G>T
CLNSRC
CLNACC RCV000412132.1,