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rs1057518690

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057518690(-;-)
Make rs1057518690(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position90760917
GeneBLM
is asnp
is mentioned by
dbSNPrs1057518690
dbSNP (old)rs1057518690
ClinGenrs1057518690
ebirs1057518690
HLIrs1057518690
Exacrs1057518690
Gnomadrs1057518690
Varsomers1057518690
Maprs1057518690
PheGenIrs1057518690
Biobankrs1057518690
1000 genomesrs1057518690
hgdprs1057518690
ensemblrs1057518690
gopubmedrs1057518690
geneviewrs1057518690
scholarrs1057518690
googlers1057518690
pharmgkbrs1057518690
gwascentralrs1057518690
openSNPrs1057518690
23andMers1057518690
23andMe allrs1057518690
SNPshotrs1057518690
SNPdbers1057518690
MSV3drs1057518690
GWAS Ctlgrs1057518690
Max Magnitude0
ClinVar
Risk rs1057518690(-;-)
Alt rs1057518690(-;-)
Reference Rs1057518690(A;A)
Significance Pathogenic
Disease Bloom syndrome
Variation info
Gene BLM
CLNDBN Bloom syndrome
Reversed 0
HGVS NC_000015.9:g.91304147delA
CLNSRC
CLNACC RCV000415444.1,