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rs63750067

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in complete genomics
(A;G) 3 Alpha-thalassemia allele carrier
Make rs63750067(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position173692
GeneHBA2
is asnp
is mentioned by
dbSNPrs63750067
ClinGenrs63750067
ebirs63750067
HLIrs63750067
Exacrs63750067
Varsomers63750067
Maprs63750067
PheGenIrs63750067
hapmaprs63750067
1000 genomesrs63750067
hgdprs63750067
ensemblrs63750067
gopubmedrs63750067
geneviewrs63750067
scholarrs63750067
googlers63750067
pharmgkbrs63750067
gwascentralrs63750067
openSNPrs63750067
23andMers63750067
23andMe allrs63750067
SNP Nexus

SNPshotrs63750067
SNPdbers63750067
MSV3drs63750067
GWAS Ctlgrs63750067
Max Magnitude3
[PMID 27569544OA-icon.png] A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
OMIM141850
Desc
Variant0024
Relatedalso
ClinVar
Risk rs63750067(G;G)
Alt rs63750067(G;G)
Reference Rs63750067(A;A)
Significance Pathogenic
Disease Alpha-thalassemia-2 Hemoglobin H disease
Variation info
Gene HBA2
CLNDBN Alpha-thalassemia-2, nondeletional Hemoglobin H disease, nondeletional
Reversed 0
HGVS NC_000016.9:g.223691A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000016933.26, RCV000022604.4,


[PMID 1281602] Hb H disease caused by a homozygosity for the AATAAA-->AATAAG mutation in the polyadenylation site of the alpha 2-globin gene: hematological observations.


[PMID 1581238] Hb H disease in a Turkish family resulting from the interaction of a deletional alpha-thalassaemia-1 and a newly discovered poly A mutation.


[PMID 7701914] Molecular characterization of alpha-thalassemia determinants, beta-thalassemia alleles, and beta S haplotypes among Kuwaiti Arabs.