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rs41525149

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs41525149(A;A)
Make rs41525149(A;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position172975
GeneHBA2
is asnp
is mentioned by
dbSNPrs41525149
ebirs41525149
HLIrs41525149
Exacrs41525149
Varsomers41525149
Maprs41525149
PheGenIrs41525149
hapmaprs41525149
1000 genomesrs41525149
hgdprs41525149
ensemblrs41525149
gopubmedrs41525149
geneviewrs41525149
scholarrs41525149
googlers41525149
pharmgkbrs41525149
gwascentralrs41525149
openSNPrs41525149
23andMers41525149
23andMe allrs41525149
SNP Nexus

SNPshotrs41525149
SNPdbers41525149
MSV3drs41525149
GWAS Ctlgrs41525149
Max Magnitude0
OMIM141800
Desc
Variant0088
Relatedalso
ClinVar
Risk rs41525149(A;A)
Alt rs41525149(A;A)
Reference rs41525149(C;C)
Significance Other
Disease HEMOGLOBIN LE LAMENTIN
Variation info
Gene HBA2
CLNDBN HEMOGLOBIN LE LAMENTIN
Reversed 0
HGVS NC_000016.9:g.222974C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000017094.1,



[PMID 3384713] Hb Le Lamentin or alpha 2 20(B1)His----GLN beta 2 found in a Spanish family.


[PMID 6671903] Hb Le Lamentin [alpha 20 (B 1) His----Gln] in Japan: structure, function and biosynthesis.


[PMID 7128817] A new silent hemoglobin variant in a black family from French West Indies, hemoglobin Le Lamentin alpha 20 His replaced by Gln.


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


[PMID 9771447OA-icon.png] Haemoglobin Le Lamentin (alpha 20 (B1) His-->Gln) in a British family: identification by electrospray mass spectrometry.


[PMID 11729221OA-icon.png] Increasing recognition of haemoglobin Le Lamentin.