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

rs34440919

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs34440919(C;G)
Make rs34440919(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position177070
GeneHBA1
is asnp
is mentioned by
dbSNPrs34440919
ebirs34440919
HLIrs34440919
Exacrs34440919
Varsomers34440919
Maprs34440919
PheGenIrs34440919
hapmaprs34440919
1000 genomesrs34440919
hgdprs34440919
ensemblrs34440919
gopubmedrs34440919
geneviewrs34440919
scholarrs34440919
googlers34440919
pharmgkbrs34440919
gwascentralrs34440919
openSNPrs34440919
23andMers34440919
23andMe allrs34440919
SNP Nexus

SNPshotrs34440919
SNPdbers34440919
MSV3drs34440919
GWAS Ctlgrs34440919
Max Magnitude0
OMIM141800
Desc
Variant0139
Relatedalso
ClinVar
Risk rs34440919(G;G)
Alt rs34440919(G;G)
Reference rs34440919(C;C)
Significance Other
Disease HEMOGLOBIN STANLEYVILLE-II
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN STANLEYVILLE-II
Reversed 0
HGVS NC_000016.9:g.227069C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000017160.2,



[PMID 807076] Haemoglobin Stanleyville II (alpha75 [EF 7] Asn yeilds Lys) found in France.


[PMID 5696551OA-icon.png] Haemoglobin Stanleyville II (alpha asparagine replaced by lysine).


[PMID 6681956] Sickle cell hemoglobin fiber formation strongly inhibited by the Stanleyville II mutation (alpha 78 Asn leads to Lys).