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rs1057517432

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517432(-;-)
Make rs1057517432(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position90761113
GeneBLM
is asnp
is mentioned by
dbSNPrs1057517432
dbSNP (classic)rs1057517432
ClinGenrs1057517432
ebirs1057517432
HLIrs1057517432
Exacrs1057517432
Gnomadrs1057517432
Varsomers1057517432
LitVarrs1057517432
Maprs1057517432
PheGenIrs1057517432
Biobankrs1057517432
1000 genomesrs1057517432
hgdprs1057517432
ensemblrs1057517432
geneviewrs1057517432
scholarrs1057517432
googlers1057517432
pharmgkbrs1057517432
gwascentralrs1057517432
openSNPrs1057517432
23andMers1057517432
23andMe allrs1057517432
SNPshotrs1057517432
SNPdbers1057517432
MSV3drs1057517432
GWAS Ctlgrs1057517432
Max Magnitude0
ClinVar
Risk rs1057517432(-;-)
Alt rs1057517432(-;-)
Reference Rs1057517432(C;C)
Significance Probable-Pathogenic
Disease Bloom syndrome
Variation info
Gene BLM
CLNDBN Bloom syndrome
Reversed 0
HGVS NC_000015.9:g.91304343delC
CLNSRC
CLNACC RCV000412340.1,