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rs35615982

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs35615982(A;A)
Make rs35615982(A;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position176754
GeneHBA1
is asnp
is mentioned by
dbSNPrs35615982
ebirs35615982
HLIrs35615982
Exacrs35615982
Varsomers35615982
Maprs35615982
PheGenIrs35615982
hapmaprs35615982
1000 genomesrs35615982
hgdprs35615982
ensemblrs35615982
gopubmedrs35615982
geneviewrs35615982
scholarrs35615982
googlers35615982
pharmgkbrs35615982
gwascentralrs35615982
openSNPrs35615982
23andMers35615982
23andMe allrs35615982
SNP Nexus

SNPshotrs35615982
SNPdbers35615982
MSV3drs35615982
GWAS Ctlgrs35615982
Max Magnitude0
OMIM141800
Desc
Variant0070
Relatedalso
ClinVar
Risk rs35615982(A;A)
Alt rs35615982(A;A)
Reference rs35615982(C;C)
Significance Other
Disease HEMOGLOBIN J (PARIS 1) HEMOGLOBIN J (ALJEZUR)
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN J (PARIS 1) HEMOGLOBIN J (ALJEZUR)
Reversed 0
HGVS NC_000016.9:g.226753C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000017068.2, RCV000017069.2,


[PMID 1191675] Hemoglobin-Strumica or alpha 2 112(G19) His replaced by Arg beta 2. (With an addendum: hemoglobin-J-Paris-I, alpha 2 12(A10) Ala replaced by Asp beta 2, in the same population).


[PMID 3124472] First observation of hemoglobin J Paris I [alpha-2-12(A10)alanine-aspartic acid beta-2] in the Indian subcontinent.


[PMID 4971935] Haemoglobin J Paris in the south of Portugal (Algarve).


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