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

rs34574239

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs34574239(C;T)
Make rs34574239(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position176994
GeneHBA1
is asnp
is mentioned by
dbSNPrs34574239
ebirs34574239
HLIrs34574239
Exacrs34574239
Varsomers34574239
Maprs34574239
PheGenIrs34574239
hapmaprs34574239
1000 genomesrs34574239
hgdprs34574239
ensemblrs34574239
gopubmedrs34574239
geneviewrs34574239
scholarrs34574239
googlers34574239
pharmgkbrs34574239
gwascentralrs34574239
openSNPrs34574239
23andMers34574239
23andMe allrs34574239
SNP Nexus

SNPshotrs34574239
SNPdbers34574239
MSV3drs34574239
GWAS Ctlgrs34574239
Max Magnitude0
OMIM141800
Desc
Variant0072
Relatedalso
ClinVar
Risk rs34574239(A;A)
Alt rs34574239(A;A)
Reference rs34574239(C;C)
Significance Other
Disease HEMOGLOBIN J (ROVIGO)
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN J (ROVIGO)
Reversed 0
HGVS NC_000016.9:g.226993C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000017071.2,


[PMID 31339] Hemoglobin J Rovigo (alpha53 Ala replaced by Asp) in association with beta-thalassemia.


[PMID 4824923] A new haemoglobin variant: J-Rovigo alpha 53 (E-2) alanine leads to aspartic acid.