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rs63750678

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;T) 3 Alpha-thalassemia allele carrier
(T;T) 0 common in clinvar


Make rs63750678(-;-)
ReferenceGRCh38 38.1/141
Chromosome16
Position172914
GeneHBA2
is asnp
is mentioned by
dbSNPrs63750678
dbSNP (classic)rs63750678
ClinGenrs63750678
ebirs63750678
HLIrs63750678
Exacrs63750678
Gnomadrs63750678
Varsomers63750678
LitVarrs63750678
Maprs63750678
PheGenIrs63750678
Biobankrs63750678
1000 genomesrs63750678
hgdprs63750678
ensemblrs63750678
geneviewrs63750678
scholarrs63750678
googlers63750678
pharmgkbrs63750678
gwascentralrs63750678
openSNPrs63750678
23andMers63750678
SNPshotrs63750678
SNPdbers63750678
MSV3drs63750678
GWAS Ctlgrs63750678
Max Magnitude3
OMIM141850
Desc
Variant0069
Relatedalso
ClinVar
Risk rs63750678(-;-)
Alt rs63750678(-;-)
Reference Rs63750678(T;T)
Significance Pathogenic
Disease Hemoglobin H disease
Variation info
Gene HBA2
CLNDBN Hemoglobin H disease, nondeletional
Reversed 0
HGVS NC_000016.9:g.222913delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000016983.6,