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

rs33914470

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs33914470(C;C)
Make rs33914470(C;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position177106
GeneHBA2
is asnp
is mentioned by
dbSNPrs33914470
ebirs33914470
HLIrs33914470
Exacrs33914470
Varsomers33914470
Maprs33914470
PheGenIrs33914470
hapmaprs33914470
1000 genomesrs33914470
hgdprs33914470
ensemblrs33914470
gopubmedrs33914470
geneviewrs33914470
scholarrs33914470
googlers33914470
pharmgkbrs33914470
gwascentralrs33914470
openSNPrs33914470
23andMers33914470
23andMe allrs33914470
SNP Nexus

SNPshotrs33914470
SNPdbers33914470
MSV3drs33914470
GWAS Ctlgrs33914470
Max Magnitude0
OMIM141800
Desc
Variant0014
Relatedalso
ClinVar
Risk rs33914470(C,T;C,T)
Alt rs33914470(C,T;C,T)
Reference rs33914470(G;G)
Significance Other
Disease HEMOGLOBIN BROUSSAIS HEMOGLOBIN J (BROUSSAIS) HEMOGLOBIN TAGAWA I
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN BROUSSAIS HEMOGLOBIN J (BROUSSAIS) HEMOGLOBIN TAGAWA I
Reversed 0
HGVS NC_000016.9:g.227105G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000016999.3, RCV000017000.3, RCV000017001.3,


[PMID 128734] [Hemoglobin J. Broussais alpha-2 90 Lys leads to Asn beta-2A (FG2) discovered in a Martinique family. Comparison of several analytical technics].


[PMID 740406] Hb I alpha16 Lys leads to Glu and Hb Broussais alpha90 Lys leads to Asn in Australian families.


[PMID 4228361] [Study of an alpha J hemoglobin not previously described, in a French family].


[PMID 5452727] Hemoglobin Broussais: alpha-90 lys changed to asn.


[PMID 7803274] The differences in quantities of alpha 2- and alpha 1-globin gene variants in heterozygotes.