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

rs33946157

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in complete genomics
(TG;TG) 0 common in clinvar
Make rs33946157(A;A)
Make rs33946157(A;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226976
GeneHBB
is asnp
is mentioned by
dbSNPrs33946157
ebirs33946157
HLIrs33946157
Exacrs33946157
Varsomers33946157
Maprs33946157
PheGenIrs33946157
hapmaprs33946157
1000 genomesrs33946157
hgdprs33946157
ensemblrs33946157
gopubmedrs33946157
geneviewrs33946157
scholarrs33946157
googlers33946157
pharmgkbrs33946157
gwascentralrs33946157
openSNPrs33946157
23andMers33946157
23andMe allrs33946157
SNP Nexus

SNPshotrs33946157
SNPdbers33946157
MSV3drs33946157
GWAS Ctlgrs33946157
Merged fromRs121909807, Rs121909816
Max Magnitude0
OMIM141900
Desc
Variant0019
Relatedalso
OMIM141900
Desc
Variant0234
Relatedalso
ClinVar
Risk rs33946157(A,C,G;A,C,G)
Alt rs33946157(A,C,G;A,C,G)
Reference rs33946157(T;T)
Significance Other
Disease HEMOGLOBIN RANDWICK HEMOGLOBIN BELFAST
Variation info
Gene HBB
CLNDBN HEMOGLOBIN RANDWICK HEMOGLOBIN BELFAST
Reversed 1
HGVS NC_000011.9:g.5248206A>C; NC_000011.9:g.5248206A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000016564.2, RCV000016261.2,


[PMID 821297] A 2d case of haemoglobin Belfast (beta 15 (A 12) Trp replaced by Arg) observed in a French patient.


[PMID 4434089OA-icon.png] Haemoglobin Belfast 15 (A12) tryptophan leading to arginine: a new unstable haemoglobin variant.


[PMID 6814990] Hb Belfast (beta 15 (A 12) Trp leads to Arg) in combination with G6PD deficiency in an Italian carrier.


[PMID 7141875] Hb Belfast (beta 15 Trp replaced by Arg) in an Italian family.


[PMID 15481889] Hb Belfast [beta15(A12)Trp-->Arg]: definition of the clinical and hematological phenotype.


[PMID 3384707] Hemoglobin Randwick or beta 15 (A12)Trp----Gly: a new unstable beta-chain hemoglobin variant.