rs34440919
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
Make rs34440919(C;G) |
Make rs34440919(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 177070 |
Gene | HBA1 |
is a | snp |
is | mentioned by |
dbSNP | rs34440919 |
dbSNP (classic) | rs34440919 |
ClinGen | rs34440919 |
ebi | rs34440919 |
HLI | rs34440919 |
Exac | rs34440919 |
Gnomad | rs34440919 |
Varsome | rs34440919 |
LitVar | rs34440919 |
Map | rs34440919 |
PheGenI | rs34440919 |
Biobank | rs34440919 |
1000 genomes | rs34440919 |
hgdp | rs34440919 |
ensembl | rs34440919 |
geneview | rs34440919 |
scholar | rs34440919 |
rs34440919 | |
pharmgkb | rs34440919 |
gwascentral | rs34440919 |
openSNP | rs34440919 |
23andMe | rs34440919 |
SNPshot | rs34440919 |
SNPdbe | rs34440919 |
MSV3d | rs34440919 |
GWAS Ctlg | rs34440919 |
Max Magnitude | 0 |
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 UniProtKB (protein) |
CLNACC | RCV000017160.2, |
[PMID 807076] Haemoglobin Stanleyville II (alpha75 [EF 7] Asn yeilds Lys) found in France.
[PMID 5696551] 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).