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

rs33984024

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs33984024(A;A)
Make rs33984024(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position177026
GeneHBA1
is asnp
is mentioned by
dbSNPrs33984024
ebirs33984024
HLIrs33984024
Exacrs33984024
Varsomers33984024
Maprs33984024
PheGenIrs33984024
hapmaprs33984024
1000 genomesrs33984024
hgdprs33984024
ensemblrs33984024
gopubmedrs33984024
geneviewrs33984024
scholarrs33984024
googlers33984024
pharmgkbrs33984024
gwascentralrs33984024
openSNPrs33984024
23andMers33984024
23andMe allrs33984024
SNP Nexus

SNPshotrs33984024
SNPdbers33984024
MSV3drs33984024
GWAS Ctlgrs33984024
Max Magnitude0
OMIM141800
Desc
Variant0043
Relatedalso
OMIM141800
Desc
Variant0116
Relatedalso
OMIM141800
Desc
Variant0121
Relatedalso
ClinVar
Risk rs33984024(A,C,T;A,C,T)
Alt rs33984024(A,C,T;A,C,T)
Reference rs33984024(G;G)
Significance Other
Disease HEMOGLOBIN G (WAIMANALO) HEMOGLOBIN AIDA HEMOGLOBIN Q (INDIA) HEMOGLOBIN PERSPOLIS
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN G (WAIMANALO) HEMOGLOBIN AIDA HEMOGLOBIN Q (INDIA) HEMOGLOBIN PERSPOLIS
Reversed 0
HGVS NC_000016.9:g.227025G>A; NC_000016.9:g.227025G>C; NC_000016.9:g.227025G>T
CLNSRC OMIM Allelic Variant HBVAR
CLNACC RCV000017034.2, RCV000017035.2, RCV000017144.2, RCV000017139.2,


[PMID 1259994] Two new haemoglobins: haemoglobin Perspolis (alpha 64 (E13) Asp leads to Tyr) and haemoglobin J-Kurosh (alpha 19 (AB) Ala leads to Asp).


[PMID 949043] Hemoglobin QIndia, alpha 64 (E13) Asp replaced by His, and beta-thalassemia in a Canadian family.


[PMID 4646552OA-icon.png] Haemoglobin Q India (alpha 64(E13) aspartic acid histidine) associated with beta-thalassemia observed in three Sindhi families.


[PMID 6585831OA-icon.png] beta-Thalassemia in Chinese: use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects.