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rs33986902

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs33986902(A;T)
Make rs33986902(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position176736
GeneHBA1
is asnp
is mentioned by
dbSNPrs33986902
ebirs33986902
HLIrs33986902
Exacrs33986902
Varsomers33986902
Maprs33986902
PheGenIrs33986902
hapmaprs33986902
1000 genomesrs33986902
hgdprs33986902
ensemblrs33986902
gopubmedrs33986902
geneviewrs33986902
scholarrs33986902
googlers33986902
pharmgkbrs33986902
gwascentralrs33986902
openSNPrs33986902
23andMers33986902
23andMe allrs33986902
SNP Nexus

SNPshotrs33986902
SNPdbers33986902
MSV3drs33986902
GWAS Ctlgrs33986902
Max Magnitude0
OMIM141800
Desc
Variant0032
Relatedalso
OMIM141800
Desc
Variant0128
Relatedalso
OMIM141800
Desc
Variant0145
Relatedalso
ClinVar
Risk rs33986902(C,G,T;C,G,T)
Alt rs33986902(C,G,T;C,G,T)
Reference rs33986902(A;A)
Significance Other
Disease HEMOGLOBIN SAWARA HEMOGLOBIN SWAN RIVER HEMOGLOBIN FERNDOWN
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN SAWARA HEMOGLOBIN SWAN RIVER HEMOGLOBIN FERNDOWN
Reversed 0
HGVS NC_000016.9:g.226735A>C; NC_000016.9:g.226735A>G; NC_000016.9:g.226735A>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000017150.2, RCV000017165.2, RCV000017019.2,


[PMID 20980] Increased oxygen affinity for hemoglobin Sawara: alphaA4(6) aspartic acid replaced by alanine.


[PMID 1241593] Studies of abnormal hemoglobins in western Japan. Frequency of visible hemoglobin variants, and chemical characterization of hemoglobin Sawara (alpha 26Alabeta2) and hemoglobin Mugino (Hb L Ferrara; alpha247Glybeta2).


[PMID 4744335] Hemoglobin Sawara: alpha 6(A4) aspartic acid leads to alanine.


[PMID 7238857] Haemoglobin Ferndown (alpha 6 [A4] aspartic acid replaced by valine).


[PMID 2753737] Hb Swan River [alpha 6(A4) Asp----Gly] initial identification in an Australian family.


[PMID 3583768] Hemoglobin Swan River [alpha 6(A4)Asp----Gly].


[PMID 8745434] HB Swan River [alpha 6(A4)ASP-->Gly] observed in a Japanese man.