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rs1057517431

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517431(-;-)
Make rs1057517431(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position90761168
GeneBLM
is asnp
is mentioned by
dbSNPrs1057517431
dbSNP (old)rs1057517431
ClinGenrs1057517431
ebirs1057517431
HLIrs1057517431
Exacrs1057517431
Gnomadrs1057517431
Varsomers1057517431
LitVarrs1057517431
Maprs1057517431
PheGenIrs1057517431
Biobankrs1057517431
1000 genomesrs1057517431
hgdprs1057517431
ensemblrs1057517431
gopubmedrs1057517431
geneviewrs1057517431
scholarrs1057517431
googlers1057517431
pharmgkbrs1057517431
gwascentralrs1057517431
openSNPrs1057517431
23andMers1057517431
23andMe allrs1057517431
SNPshotrs1057517431
SNPdbers1057517431
MSV3drs1057517431
GWAS Ctlgrs1057517431
Max Magnitude0
ClinVar
Risk rs1057517431(-;-)
Alt rs1057517431(-;-)
Reference Rs1057517431(A;A)
Significance Probable-Pathogenic
Disease Bloom syndrome
Variation info
Gene BLM
CLNDBN Bloom syndrome
Reversed 0
HGVS NC_000015.9:g.91304398delA
CLNSRC
CLNACC RCV000411246.1,