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rs35317336

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs35317336(C;G)
Make rs35317336(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position176996
GeneHBA1
is asnp
is mentioned by
dbSNPrs35317336
ebirs35317336
HLIrs35317336
Exacrs35317336
Varsomers35317336
Maprs35317336
PheGenIrs35317336
hapmaprs35317336
1000 genomesrs35317336
hgdprs35317336
ensemblrs35317336
gopubmedrs35317336
geneviewrs35317336
scholarrs35317336
googlers35317336
pharmgkbrs35317336
gwascentralrs35317336
openSNPrs35317336
23andMers35317336
23andMe allrs35317336
SNP Nexus

SNPshotrs35317336
SNPdbers35317336
MSV3drs35317336
GWAS Ctlgrs35317336
Max Magnitude0
OMIM141800
Desc
Variant0097
Relatedalso
ClinVar
Risk rs35317336(G;G)
Alt rs35317336(G;G)
Reference rs35317336(C;C)
Significance Other
Disease HEMOGLOBIN MEXICO HEMOGLOBIN J HEMOGLOBIN J (MEXICO) HEMOGLOBIN J (PARIS 2) HEMOGLOBIN UPPSALA
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN MEXICO HEMOGLOBIN J HEMOGLOBIN J (MEXICO) HEMOGLOBIN J (PARIS 2) HEMOGLOBIN UPPSALA
Reversed 0
HGVS NC_000016.9:g.226995C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000017109.2, RCV000017110.2, RCV000017111.2, RCV000017112.2, RCV000017113.2,


[PMID 71990] Demonstration of two alpha-globin genes per human haploid genome for normals and Hb J Mexico.


[PMID 669703] Genetic and biosynthetic studies of families carrying hemoglobin J alpha Mexico: association of alpha-thalassemia with HbJ.


[PMID 1052168] Homozygous cases for hemoglobin J Mexico (alpha54 (E3)Gln replaced by Glu) evidence for a duplicated alpha gene with unequal expression.


[PMID 5650416] Chemical characterization of hemoglobin-Mexico and hemoglobin-Chiapas.


[PMID 5798597] On the chemical structure of haemoglobin Uppsala.