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

rs41443947

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs41443947(CT;G)
Make rs41443947(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225698
GeneHBB
is asnp
is mentioned by
dbSNPrs41443947
ebirs41443947
HLIrs41443947
Exacrs41443947
Varsomers41443947
Maprs41443947
PheGenIrs41443947
hapmaprs41443947
1000 genomesrs41443947
hgdprs41443947
ensemblrs41443947
gopubmedrs41443947
geneviewrs41443947
scholarrs41443947
googlers41443947
pharmgkbrs41443947
gwascentralrs41443947
openSNPrs41443947
23andMers41443947
23andMe allrs41443947
SNP Nexus

SNPshotrs41443947
SNPdbers41443947
MSV3drs41443947
GWAS Ctlgrs41443947
Max Magnitude0
OMIM141900
Desc
Variant0335
Relatedalso


ClinVar
Risk rs41443947(G;G)
Alt rs41443947(G;G)
Reference rs41443947(CT;CT)
Significance Pathogenic
Disease beta^0^ Thalassemia
Variation info
Gene HBB
CLNDBN beta^0^ Thalassemia
Reversed 1
HGVS NC_000011.9:g.5246928_5246929delAGinsC
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016681.27,



[PMID 3401599] Inclusion body beta-thalassemia trait in a Swiss family is caused by an abnormal hemoglobin (Geneva) with an altered and extended beta chain carboxy-terminus due to a modification in codon beta 114.