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rs34102339

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs34102339(G;T)
Make rs34102339(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position177116
GeneHBA2
is asnp
is mentioned by
dbSNPrs34102339
ebirs34102339
HLIrs34102339
Exacrs34102339
Varsomers34102339
Maprs34102339
PheGenIrs34102339
hapmaprs34102339
1000 genomesrs34102339
hgdprs34102339
ensemblrs34102339
gopubmedrs34102339
geneviewrs34102339
scholarrs34102339
googlers34102339
pharmgkbrs34102339
gwascentralrs34102339
openSNPrs34102339
23andMers34102339
23andMe allrs34102339
SNP Nexus

SNPshotrs34102339
SNPdbers34102339
MSV3drs34102339
GWAS Ctlgrs34102339
Max Magnitude0
OMIM141800
Desc
Variant0130
Relatedalso
OMIM141800
Desc
Variant0143
Relatedalso
OMIM141800
Desc
Variant0148
Relatedalso
ClinVar
Risk rs34102339(A,C,T;A,C,T)
Alt rs34102339(A,C,T;A,C,T)
Reference rs34102339(G;G)
Significance Other
Disease HEMOGLOBIN TITUSVILLE HEMOGLOBIN SUNSHINE SETH HEMOGLOBIN SETIF
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN TITUSVILLE HEMOGLOBIN SUNSHINE SETH HEMOGLOBIN SETIF
Reversed 0
HGVS NC_000016.9:g.227115G>A; NC_000016.9:g.227115G>C; NC_000016.9:g.227115G>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000017167.2, RCV000017163.2, RCV000017151.4,


[PMID 1164512] Haemoglobin Titusville: alpha94 Asp replaced by Asn. A new haemoglobin with a lowered affinity for oxygen.


[PMID 15551405] Hemoglobin Titusville, a low oxygen affinity variant hemoglobin, in a family of Northern European background.