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

rs33944368

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs33944368(A;C)
Make rs33944368(C;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position176976
GeneHBA1
is asnp
is mentioned by
dbSNPrs33944368
ebirs33944368
HLIrs33944368
Exacrs33944368
Varsomers33944368
Maprs33944368
PheGenIrs33944368
hapmaprs33944368
1000 genomesrs33944368
hgdprs33944368
ensemblrs33944368
gopubmedrs33944368
geneviewrs33944368
scholarrs33944368
googlers33944368
pharmgkbrs33944368
gwascentralrs33944368
openSNPrs33944368
23andMers33944368
23andMe allrs33944368
SNP Nexus

SNPshotrs33944368
SNPdbers33944368
MSV3drs33944368
GWAS Ctlgrs33944368
Max Magnitude0
OMIM141800
Desc
Variant0023
Relatedalso
OMIM141800
Desc
Variant0084
Relatedalso
ClinVar
Risk rs33944368(C,G;C,G)
Alt rs33944368(C,G;C,G)
Reference rs33944368(A;A)
Significance Other
Disease HEMOGLOBIN CORDELE HEMOGLOBIN KOKURA HEMOGLOBIN BEILINSON HEMOGLOBIN MICHIGAN-I HEMOGLOBIN MICHIGAN-II HEMOGLOBIN L (GASLINI) HEMOGLOBIN TAGAWA II HEMOGLOBIN UMI HEMOGLOBIN MUGINO HEMOGLOBIN YUKUHASHI-2
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN CORDELE HEMOGLOBIN KOKURA HEMOGLOBIN BEILINSON HEMOGLOBIN MICHIGAN-I HEMOGLOBIN MICHIGAN-II HEMOGLOBIN L (GASLINI) HEMOGLOBIN TAGAWA II HEMOGLOBIN UMI HEMOGLOBIN MUGINO HEMOGLOBIN YUKUHASHI-2
Reversed 0
HGVS NC_000016.9:g.226975A>C; NC_000016.9:g.226975A>G
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000017010.2, RCV000017083.2, RCV000017084.2, RCV000017085.2, RCV000017086.2, RCV000017087.2, RCV000017088.2, RCV000017089.2, RCV000017090.2, RCV000017091.2,


[PMID 7068437] HB Kokura [alpha 47 (CE 5) Asp leads to Gly]: a slightly unstable variant.


[PMID 6547117] Hb Cordele alpha(2)47 (CE5)Asp----Ala beta 2. A mildly unstable variant observed in black twins.