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rs1057517229

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TGAC;TGAC) 0 common in clinvar
Make rs1057517229(-;-)
Make rs1057517229(-;CTGA)
Make rs1057517229(CTGA;CTGA)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position90749930
GeneBLM
is asnp
is mentioned by
dbSNPrs1057517229
dbSNP (old)rs1057517229
ClinGenrs1057517229
ebirs1057517229
HLIrs1057517229
Exacrs1057517229
Gnomadrs1057517229
Varsomers1057517229
LitVarrs1057517229
Maprs1057517229
PheGenIrs1057517229
Biobankrs1057517229
1000 genomesrs1057517229
hgdprs1057517229
ensemblrs1057517229
gopubmedrs1057517229
geneviewrs1057517229
scholarrs1057517229
googlers1057517229
pharmgkbrs1057517229
gwascentralrs1057517229
openSNPrs1057517229
23andMers1057517229
23andMe allrs1057517229
SNPshotrs1057517229
SNPdbers1057517229
MSV3drs1057517229
GWAS Ctlgrs1057517229
Max Magnitude0
ClinVar
Risk rs1057517229(-;-)
Alt rs1057517229(-;-)
Reference Rs1057517229(TGAC;TGAC)
Significance Probable-Pathogenic
Disease Bloom syndrome
Variation info
Gene BLM
CLNDBN Bloom syndrome
Reversed 0
HGVS NC_000015.9:g.91293160_91293163delCTGA
CLNSRC
CLNACC RCV000411857.1,