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rs864622347

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AT;AT) 0 common in clinvar
(TA;TA) 0 common in clinvar
Make rs864622347(-;-)
Make rs864622347(-;TA)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position90782846
GeneBLM
is asnp
is mentioned by
dbSNPrs864622347
dbSNP (old)rs864622347
ClinGenrs864622347
ebirs864622347
HLIrs864622347
Exacrs864622347
Gnomadrs864622347
Varsomers864622347
Maprs864622347
PheGenIrs864622347
Biobankrs864622347
1000 genomesrs864622347
hgdprs864622347
ensemblrs864622347
gopubmedrs864622347
geneviewrs864622347
scholarrs864622347
googlers864622347
pharmgkbrs864622347
gwascentralrs864622347
openSNPrs864622347
23andMers864622347
23andMe allrs864622347
SNP Nexus

SNPshotrs864622347
SNPdbers864622347
MSV3drs864622347
GWAS Ctlgrs864622347
Max Magnitude0
ClinVar
Risk rs864622347(-;-) Rs864622347(AT;AT)
Alt rs864622347(-;-) Rs864622347(AT;AT)
Reference Rs864622347(TA;TA)
Significance Pathogenic
Disease Bloom syndrome
Variation info
Gene BLM
CLNDBN Bloom syndrome
Reversed 0
HGVS NC_000015.9:g.91326076_91326077delTA
CLNSRC
CLNACC RCV000204244.1,