Have questions? Visit https://www.reddit.com/r/SNPedia

rs63749948

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;C) 3 Alpha-thalassemia allele carrier
(C;C) 0 common in complete genomics


Make rs63749948(A;A)
ReferenceGRCh38 38.1/141
Chromosome16
Position177314
GeneHBA1
is asnp
is mentioned by
dbSNPrs63749948
ebirs63749948
HLIrs63749948
Exacrs63749948
Varsomers63749948
Maprs63749948
PheGenIrs63749948
hapmaprs63749948
1000 genomesrs63749948
hgdprs63749948
ensemblrs63749948
gopubmedrs63749948
geneviewrs63749948
scholarrs63749948
googlers63749948
pharmgkbrs63749948
gwascentralrs63749948
openSNPrs63749948
23andMers63749948
23andMe allrs63749948
SNP Nexus

SNPshotrs63749948
SNPdbers63749948
MSV3drs63749948
GWAS Ctlgrs63749948
Max Magnitude3
OMIM141800
Desc
Variant0117
Relatedalso
ClinVar
Risk rs63749948(A,T;A,T)
Alt rs63749948(A,T;A,T)
Reference rs63749948(C;C)
Significance Other
Disease HEMOGLOBIN PETAH TIKVA
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN PETAH TIKVA
Reversed 0
HGVS NC_000016.9:g.227313C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000017140.2,


[PMID 7470621] Hemoglobin Petah Tikva (alpha 110 ala replaced by asp): a new unstable variant with alpha-thalassemia-like expression.