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rs33935328

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs33935328(G;T)
Make rs33935328(T;T)
ReferenceGRCh38 38.1/142
Chromosome16
Position177407
GeneHBA1
is asnp
is mentioned by
dbSNPrs33935328
ebirs33935328
HLIrs33935328
Exacrs33935328
Varsomers33935328
Maprs33935328
PheGenIrs33935328
hapmaprs33935328
1000 genomesrs33935328
hgdprs33935328
ensemblrs33935328
gopubmedrs33935328
geneviewrs33935328
scholarrs33935328
googlers33935328
pharmgkbrs33935328
gwascentralrs33935328
openSNPrs33935328
23andMers33935328
23andMe allrs33935328
SNP Nexus

SNPshotrs33935328
SNPdbers33935328
MSV3drs33935328
GWAS Ctlgrs33935328
Max Magnitude0
OMIM141800
Desc
Variant0087
Relatedalso
OMIM141800
Desc
Variant0135
Relatedalso
OMIM141800
Desc
Variant0144
Relatedalso


ClinVar
Risk rs33935328(A,C,T;A,C,T)
Alt rs33935328(A,C,T;A,C,T)
Reference rs33935328(G;G)
Significance Other
Disease HEMOGLOBIN SURESNES HEMOGLOBIN SINGAPORE HEMOGLOBIN LEGNANO
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN SURESNES HEMOGLOBIN SINGAPORE HEMOGLOBIN LEGNANO
Reversed 0
HGVS NC_000016.9:g.227406G>A; NC_000016.9:g.227406G>C; NC_000016.9:g.227406G>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000017164.2, RCV000017157.2, RCV000017093.2,



[PMID 5782115] Two new haemoglobin variants involving proline substitutions.


[PMID 11123] Structural and functional studies of haemoglobin Suresnes or alpha2 141 (HC3) Arg replaced by His beta2, a new high oxygen affinity mutant.


[PMID 640857] Hb Suresnes or alpha2 141(HC3) ArgyieldHis beta2 in a black family.


[PMID 7410435] Structural and functional studies of hemoglobin Suresnes (arg 141 alpha 2 replaced by His beta 2). Consequences of disrupting an oxygen-linked anion-binding site.


[PMID 701083] Hemoglobin Legnano (alpha2 141 (HC3) Arg replaced by Leu beta2): a new abnormal human hemoglobin with high oxygen affinity.