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rs780379121

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs780379121(-;-)
Make rs780379121(-;G)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position90794175
GeneBLM
is asnp
is mentioned by
dbSNPrs780379121
ebirs780379121
HLIrs780379121
Exacrs780379121
Varsomers780379121
Maprs780379121
PheGenIrs780379121
hapmaprs780379121
1000 genomesrs780379121
hgdprs780379121
ensemblrs780379121
gopubmedrs780379121
geneviewrs780379121
scholarrs780379121
googlers780379121
pharmgkbrs780379121
gwascentralrs780379121
openSNPrs780379121
23andMers780379121
23andMe allrs780379121
SNP Nexus

SNPshotrs780379121
SNPdbers780379121
MSV3drs780379121
GWAS Ctlgrs780379121
Max Magnitude0
ClinVar
Risk rs780379121(;)
Alt rs780379121(;)
Reference rs780379121(G;G)
Significance Probable-Pathogenic
Disease Bloom syndrome
Variation info
Gene BLM
CLNDBN Bloom syndrome
Reversed 0
HGVS NC_000015.9:g.91337405delG
CLNSRC Counsyl
CLNACC RCV000169440.1,