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rs63749997

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs63749997(A;A)
Make rs63749997(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position173237
GeneHBA2
is asnp
is mentioned by
dbSNPrs63749997
ebirs63749997
HLIrs63749997
Exacrs63749997
Varsomers63749997
Maprs63749997
PheGenIrs63749997
hapmaprs63749997
1000 genomesrs63749997
hgdprs63749997
ensemblrs63749997
gopubmedrs63749997
geneviewrs63749997
scholarrs63749997
googlers63749997
pharmgkbrs63749997
gwascentralrs63749997
openSNPrs63749997
23andMers63749997
23andMe allrs63749997
SNP Nexus

SNPshotrs63749997
SNPdbers63749997
MSV3drs63749997
GWAS Ctlgrs63749997
Max Magnitude0
OMIM141850
Desc
Variant0061
Relatedalso


ClinVar
Risk rs63749997(A;A)
Alt rs63749997(A;A)
Reference rs63749997(G;G)
Significance Other
Disease HEMOGLOBIN DECINES-CHARPIEU
Variation info
Gene HBA2
CLNDBN HEMOGLOBIN DECINES-CHARPIEU
Reversed 0
HGVS NC_000016.9:g.223236G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000016973.1,



[PMID 15008265] Two new alpha chain variants: Hb Part-Dieu [alpha65(E14)Ala --> Thr (alpha2)] and Hb Decines-Charpieu [alpha69(E18)Ala --> Thr (alpha2)].