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

rs63750801

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs63750801(C;C)
Make rs63750801(C;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position173586
GeneHBA2
is asnp
is mentioned by
dbSNPrs63750801
dbSNP (classic)rs63750801
ClinGenrs63750801
ebirs63750801
HLIrs63750801
Exacrs63750801
Gnomadrs63750801
Varsomers63750801
LitVarrs63750801
Maprs63750801
PheGenIrs63750801
Biobankrs63750801
1000 genomesrs63750801
hgdprs63750801
ensemblrs63750801
geneviewrs63750801
scholarrs63750801
googlers63750801
pharmgkbrs63750801
gwascentralrs63750801
openSNPrs63750801
23andMers63750801
SNPshotrs63750801
SNPdbers63750801
MSV3drs63750801
GWAS Ctlgrs63750801
Max Magnitude0
OMIM141800
Desc
Variant0007
Relatedalso


ClinVar
Risk rs63750801(C;C)
Alt rs63750801(C;C)
Reference Rs63750801(T;T)
Significance Untested
Disease
Variation info
Gene HBA2
CLNDBN
Reversed 0
HGVS NC_000016.9:g.223585T>C
CLNSRC
CLNACC



[PMID 2108715] Structural, functional, and subunit assembly properties of hemoglobin Attleboro [alpha 138 (H21) Ser----Pro], a variant possessing a site maturation at a critical C-terminal residue.