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rs41392146

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs41392146(G;G)
Make rs41392146(G;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position173175
GeneHBA2
is asnp
is mentioned by
dbSNPrs41392146
ebirs41392146
HLIrs41392146
Exacrs41392146
Varsomers41392146
Maprs41392146
PheGenIrs41392146
hapmaprs41392146
1000 genomesrs41392146
hgdprs41392146
ensemblrs41392146
gopubmedrs41392146
geneviewrs41392146
scholarrs41392146
googlers41392146
pharmgkbrs41392146
gwascentralrs41392146
openSNPrs41392146
23andMers41392146
23andMe allrs41392146
SNP Nexus

SNPshotrs41392146
SNPdbers41392146
MSV3drs41392146
GWAS Ctlgrs41392146
Max Magnitude0
OMIM141850
Desc
Variant0013
Relatedalso
ClinVar
Risk rs41392146(C,G;C,G)
Alt rs41392146(C,G;C,G)
Reference rs41392146(T;T)
Significance Other
Disease HEMOGLOBIN MONTGOMERY HEMOGLOBIN BIRMINGHAM (USA)
Variation info
Gene HBA2
CLNDBN HEMOGLOBIN MONTGOMERY HEMOGLOBIN BIRMINGHAM (USA)
Reversed 0
HGVS NC_000016.9:g.223174T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000016914.1, RCV000016915.1,


[PMID 1115799] Two new hemoglobins. Hemoglobin Alabama (beta39(C5)Gln leads to Lys) and hemoglobin Montgomery (alpha 48(CD 6) Leu leads to Arg).


[PMID 7096113] Hemoglobin Montgomery (alpha 2 48 Leu replaced by Arg beta 2) in a Chinese family.


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