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rs33978134

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs33978134(C;G)
Make rs33978134(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position176967
GeneHBA1
is asnp
is mentioned by
dbSNPrs33978134
ebirs33978134
HLIrs33978134
Exacrs33978134
Varsomers33978134
Maprs33978134
PheGenIrs33978134
hapmaprs33978134
1000 genomesrs33978134
hgdprs33978134
ensemblrs33978134
gopubmedrs33978134
geneviewrs33978134
scholarrs33978134
googlers33978134
pharmgkbrs33978134
gwascentralrs33978134
openSNPrs33978134
23andMers33978134
23andMe allrs33978134
SNP Nexus

SNPshotrs33978134
SNPdbers33978134
MSV3drs33978134
GWAS Ctlgrs33978134
Max Magnitude0
OMIM141800
Desc
Variant0082
Relatedalso
OMIM141800
Desc
Variant0098
Relatedalso
ClinVar
Risk rs33978134(G,T;G,T)
Alt rs33978134(G,T;G,T)
Reference rs33978134(C;C)
Significance Other
Disease HEMOGLOBIN KAWACHI HEMOGLOBIN MILLEDGEVILLE
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN KAWACHI HEMOGLOBIN MILLEDGEVILLE
Reversed 0
HGVS NC_000016.9:g.226966C>G; NC_000016.9:g.226966C>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000017080.3, RCV000017114.2,


[PMID 7213661] Hemoglobin Milledgeville (alpha 44 (CD2) Pro leads to Leu): a new variant with increased oxygen affinity.


[PMID 12403493] Thrombotic events in compound heterozygotes for a high affinity hemoglobin variant: Hb Milledgeville [alpha44(CE2)Pro-->Leu (alpha2)] and factor V Leiden.


[PMID 7068434] Hemoglobin Kawachi [alpha 44 (CE2) Pro leads to Arg]: a new hemoglobin variant of high oxygen affinity with amino acid substitution at alpha 1 beta 2 contact.