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rs1057517266

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(AGCA;AGCA) 0 common in clinvar
Make rs1057517266(AGCA;GGC)
Make rs1057517266(GGC;GGC)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position90761095
GeneBLM
is asnp
is mentioned by
dbSNPrs1057517266
dbSNP (old)rs1057517266
ClinGenrs1057517266
ebirs1057517266
HLIrs1057517266
Exacrs1057517266
Gnomadrs1057517266
Varsomers1057517266
Maprs1057517266
PheGenIrs1057517266
Biobankrs1057517266
1000 genomesrs1057517266
hgdprs1057517266
ensemblrs1057517266
gopubmedrs1057517266
geneviewrs1057517266
scholarrs1057517266
googlers1057517266
pharmgkbrs1057517266
gwascentralrs1057517266
openSNPrs1057517266
23andMers1057517266
23andMe allrs1057517266
SNPshotrs1057517266
SNPdbers1057517266
MSV3drs1057517266
GWAS Ctlgrs1057517266
Max Magnitude0
ClinVar
Risk rs1057517266(GGC;GGC)
Alt rs1057517266(GGC;GGC)
Reference Rs1057517266(AGCA;AGCA)
Significance Probable-Pathogenic
Disease Bloom syndrome
Variation info
Gene BLM
CLNDBN Bloom syndrome
Reversed 0
HGVS NC_000015.9:g.91304325_91304328delAGCAinsGGC
CLNSRC
CLNACC RCV000409598.1,