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rs35672478

From SNPedia

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


Make rs35672478(-;-)
ReferenceGRCh38 38.1/141
Chromosome16
Position177020
GeneHBA1
is asnp
is mentioned by
dbSNPrs35672478
ebirs35672478
HLIrs35672478
Exacrs35672478
Varsomers35672478
Maprs35672478
PheGenIrs35672478
hapmaprs35672478
1000 genomesrs35672478
hgdprs35672478
ensemblrs35672478
gopubmedrs35672478
geneviewrs35672478
scholarrs35672478
googlers35672478
pharmgkbrs35672478
gwascentralrs35672478
openSNPrs35672478
23andMers35672478
23andMe allrs35672478
SNP Nexus

SNPshotrs35672478
SNPdbers35672478
MSV3drs35672478
GWAS Ctlgrs35672478
Max Magnitude3
OMIM141800
Desc
Variant0202
Relatedalso


ClinVar
Risk rs35672478(;)
Alt rs35672478(;)
Reference rs35672478(GGT;GGT)
Significance Other
Disease HEMOGLOBIN AGHIA SOPHIA Hemoglobin H disease
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN AGHIA SOPHIA Hemoglobin H disease, nondeletional
Reversed 0
HGVS NC_000016.9:g.227019_227021delGTG
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000017221.2, RCV000022601.5,



[PMID 10569720] Hb Aghia Sophia [alpha62(E11)Val-->0 (alpha1)], an "in-frame" deletion causing alpha-thalassemia.