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rs41344646

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs41344646(C;G)
Make rs41344646(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position173480
GeneHBA2
is asnp
is mentioned by
dbSNPrs41344646
ebirs41344646
HLIrs41344646
Exacrs41344646
Varsomers41344646
Maprs41344646
PheGenIrs41344646
hapmaprs41344646
1000 genomesrs41344646
hgdprs41344646
ensemblrs41344646
gopubmedrs41344646
geneviewrs41344646
scholarrs41344646
googlers41344646
pharmgkbrs41344646
gwascentralrs41344646
openSNPrs41344646
23andMers41344646
23andMe allrs41344646
SNP Nexus

SNPshotrs41344646
SNPdbers41344646
MSV3drs41344646
GWAS Ctlgrs41344646
Max Magnitude0
OMIM141850
Desc
Variant0047
Relatedalso


ClinVar
Risk rs41344646(A,G;A,G)
Alt rs41344646(A,G;A,G)
Reference rs41344646(C;C)
Significance Other
Disease HEMOGLOBIN MANITOBA
Variation info
Gene HBA2
CLNDBN HEMOGLOBIN MANITOBA
Reversed 0
HGVS NC_000016.9:g.223479C>A
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016957.1,



[PMID 87] Some physicochemical properties of hemoglobin-manitoba (alpha2 102Ser replaced by Arg (G9) beta2).


[PMID 5452728] alpha 102(G9) serine replaced by arginine.


[PMID 6547932] The characterization of hemoglobin Manitoba or alpha (2)102(G9)Ser----Arg beta 2 and hemoglobin Contaldo or alpha (2)103(G10)His----Arg beta 2 by high performance liquid chromatography.


[PMID 7803274] The differences in quantities of alpha 2- and alpha 1-globin gene variants in heterozygotes.