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

rs63751282

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs63751282(C;C)
Make rs63751282(C;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position173596
GeneHBA2
is asnp
is mentioned by
dbSNPrs63751282
ebirs63751282
HLIrs63751282
Exacrs63751282
Varsomers63751282
Maprs63751282
PheGenIrs63751282
hapmaprs63751282
1000 genomesrs63751282
hgdprs63751282
ensemblrs63751282
gopubmedrs63751282
geneviewrs63751282
scholarrs63751282
googlers63751282
pharmgkbrs63751282
gwascentralrs63751282
openSNPrs63751282
23andMers63751282
23andMe allrs63751282
SNP Nexus

SNPshotrs63751282
SNPdbers63751282
MSV3drs63751282
GWAS Ctlgrs63751282
Max Magnitude0
OMIM141800
Desc
Variant0087
Relatedalso
OMIM141800
Desc
Variant0135
Relatedalso
OMIM141800
Desc
Variant0144
Relatedalso
ClinVar
Risk rs63751282(A,C,T;A,C,T)
Alt rs63751282(A,C,T;A,C,T)
Reference rs63751282(G;G)
Significance Untested
Disease
Variation info
Gene HBA2
CLNDBN
Reversed 0
HGVS NC_000016.9:g.223595G>A; NC_000016.9:g.223595G>C; NC_000016.9:g.223595G>T
CLNSRC
CLNACC


[PMID 5782115] Two new haemoglobin variants involving proline substitutions.


[PMID 11123] Structural and functional studies of haemoglobin Suresnes or alpha2 141 (HC3) Arg replaced by His beta2, a new high oxygen affinity mutant.


[PMID 640857] Hb Suresnes or alpha2 141(HC3) ArgyieldHis beta2 in a black family.


[PMID 7410435] Structural and functional studies of hemoglobin Suresnes (arg 141 alpha 2 replaced by His beta 2). Consequences of disrupting an oxygen-linked anion-binding site.


[PMID 701083] Hemoglobin Legnano (alpha2 141 (HC3) Arg replaced by Leu beta2): a new abnormal human hemoglobin with high oxygen affinity.