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rs1057516297

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516297(-;T)
Make rs1057516297(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position90749711
GeneBLM
is asnp
is mentioned by
dbSNPrs1057516297
dbSNP (old)rs1057516297
ClinGenrs1057516297
ebirs1057516297
HLIrs1057516297
Exacrs1057516297
Gnomadrs1057516297
Varsomers1057516297
LitVarrs1057516297
Maprs1057516297
PheGenIrs1057516297
Biobankrs1057516297
1000 genomesrs1057516297
hgdprs1057516297
ensemblrs1057516297
gopubmedrs1057516297
geneviewrs1057516297
scholarrs1057516297
googlers1057516297
pharmgkbrs1057516297
gwascentralrs1057516297
openSNPrs1057516297
23andMers1057516297
23andMe allrs1057516297
SNPshotrs1057516297
SNPdbers1057516297
MSV3drs1057516297
GWAS Ctlgrs1057516297
Max Magnitude0
ClinVar
Risk rs1057516297(T;T)
Alt rs1057516297(T;T)
Reference Rs1057516297(-;-)
Significance Probable-Pathogenic
Disease Bloom syndrome
Variation info
Gene BLM
CLNDBN Bloom syndrome
Reversed 0
HGVS NC_000015.9:g.91292941dupT
CLNSRC
CLNACC RCV000411717.1,