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rs41407250

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs41407250(A;G)
Make rs41407250(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position176765
GeneHBA1
is asnp
is mentioned by
dbSNPrs41407250
ebirs41407250
HLIrs41407250
Exacrs41407250
Varsomers41407250
Maprs41407250
PheGenIrs41407250
hapmaprs41407250
1000 genomesrs41407250
hgdprs41407250
ensemblrs41407250
gopubmedrs41407250
geneviewrs41407250
scholarrs41407250
googlers41407250
pharmgkbrs41407250
gwascentralrs41407250
openSNPrs41407250
23andMers41407250
23andMe allrs41407250
SNP Nexus

SNPshotrs41407250
SNPdbers41407250
MSV3drs41407250
GWAS Ctlgrs41407250
Max Magnitude0
OMIM141800
Desc
Variant0055
Relatedalso
OMIM141850
Desc
Variant0011
Relatedalso
ClinVar
Risk rs41407250(G;G)
Alt rs41407250(G;G)
Reference rs41407250(A;A)
Significance Other
Disease HEMOGLOBIN I HEMOGLOBIN I (BURLINGTON) HEMOGLOBIN I (PHILADELPHIA) HEMOGLOBIN I (SKAMANIA) HEMOGLOBIN I (TEXAS)
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN I HEMOGLOBIN I (BURLINGTON) HEMOGLOBIN I (PHILADELPHIA) HEMOGLOBIN I (SKAMANIA) HEMOGLOBIN I (TEXAS)
Reversed 0
HGVS NC_000016.9:g.226764A>G
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000017051.3, RCV000017052.3, RCV000017053.3, RCV000017054.3, RCV000017055.3,


[PMID 740406] Hb I alpha16 Lys leads to Glu and Hb Broussais alpha90 Lys leads to Asn in Australian families.


[PMID 5480848OA-icon.png] Diminished synthesis of an alpha chain mutant, hemoglobin I (alpha-16 lys leads to glu).


[PMID 5886214] Abnormal haemoglobins and the genetic code.


[PMID 6129205] Hemoglobin I (alpha 16(A14) Lys replaced by Glu) and hemoglobin J Iran (beta 77(EF1) His replaced by Asp) discovered in Japanese.


[PMID 6505702] Hemoglobin I mutation encoded at both alpha-globin loci on the same chromosome: concerted evolution in the human genome.


[PMID 7803274] The differences in quantities of alpha 2- and alpha 1-globin gene variants in heterozygotes.