Have questions? Visit https://www.reddit.com/r/SNPedia

rs367543012

来自SNPedia
跳转至:导航搜索

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs367543012(-;-)
Make rs367543012(-;T)
Make rs367543012(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position90769438
GeneBLM
is asnp
is mentioned by
dbSNPrs367543012
ebirs367543012
HLIrs367543012
Exacrs367543012
Varsomers367543012
Maprs367543012
PheGenIrs367543012
hapmaprs367543012
1000 genomesrs367543012
hgdprs367543012
ensemblrs367543012
gopubmedrs367543012
geneviewrs367543012
scholarrs367543012
googlers367543012
pharmgkbrs367543012
gwascentralrs367543012
openSNPrs367543012
23andMers367543012
23andMe allrs367543012
SNP Nexus

SNPshotrs367543012
SNPdbers367543012
MSV3drs367543012
GWAS Ctlgrs367543012
Max Magnitude0
ClinVar
Risk rs367543012(T;T)
Alt rs367543012(T;T)
Reference rs367543012(;)
Significance Pathogenic
Disease Bloom syndrome
Variation info
Gene BLM
CLNDBN Bloom syndrome
Reversed 0
HGVS NC_000015.9:g.91312668dupT
CLNSRC ClinVar GeneReviews
CLNACC RCV000035004.2,


[PMID 9837821OA-icon.png] The Ashkenazic Jewish Bloom syndrome mutation blmAsh is present in non-Jewish Americans of Spanish ancestry.


[PMID 17407155] Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry.