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rs148969222

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs148969222(G;T)
Make rs148969222(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position90803721
GeneBLM
is asnp
is mentioned by
dbSNPrs148969222
ebirs148969222
HLIrs148969222
Exacrs148969222
Varsomers148969222
Maprs148969222
PheGenIrs148969222
hapmaprs148969222
1000 genomesrs148969222
hgdprs148969222
ensemblrs148969222
gopubmedrs148969222
geneviewrs148969222
scholarrs148969222
googlers148969222
pharmgkbrs148969222
gwascentralrs148969222
openSNPrs148969222
23andMers148969222
23andMe allrs148969222
SNP Nexus

SNPshotrs148969222
SNPdbers148969222
MSV3drs148969222
GWAS Ctlgrs148969222
Max Magnitude0
ClinVar
Risk rs148969222(A,T;A,T)
Alt rs148969222(A,T;A,T)
Reference rs148969222(G;G)
Significance Pathogenic
Disease Bloom syndrome
Variation info
Gene BLM
CLNDBN Bloom syndrome
Reversed 0
HGVS NC_000015.9:g.91346951G>A; NC_000015.9:g.91346951G>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000034911.1, RCV000205550.1,