rs33954632
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
Make rs33954632(A;A) |
Make rs33954632(A;C) |
Reference | GRCh38 38.1/142 |
Chromosome | 11 |
Position | 5226939 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs33954632 |
dbSNP (classic) | rs33954632 |
ClinGen | rs33954632 |
ebi | rs33954632 |
HLI | rs33954632 |
Exac | rs33954632 |
Gnomad | rs33954632 |
Varsome | rs33954632 |
LitVar | rs33954632 |
Map | rs33954632 |
PheGenI | rs33954632 |
Biobank | rs33954632 |
1000 genomes | rs33954632 |
hgdp | rs33954632 |
ensembl | rs33954632 |
geneview | rs33954632 |
scholar | rs33954632 |
rs33954632 | |
pharmgkb | rs33954632 |
gwascentral | rs33954632 |
openSNP | rs33954632 |
23andMe | rs33954632 |
SNPshot | rs33954632 |
SNPdbe | rs33954632 |
MSV3d | rs33954632 |
GWAS Ctlg | rs33954632 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs33954632(A;A) rs33954632(G;G) rs33954632(T;T) |
Alt | rs33954632(A;A) rs33954632(G;G) rs33954632(T;T) |
Reference | Rs33954632(C;C) |
Significance | Other |
Disease | HEMOGLOBIN GRANGE-BLANCHE HEMOGLOBIN VOLGA HEMOGLOBIN DRENTHE |
Variation | info |
Gene | HBB |
CLNDBN | HEMOGLOBIN GRANGE-BLANCHE HEMOGLOBIN VOLGA HEMOGLOBIN DRENTHE |
Reversed | 1 |
HGVS | NC_000011.9:g.5248169G>A; NC_000011.9:g.5248169G>T |
CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016364.2, RCV000016638.3, RCV000016639.3, |
[PMID 952960] Hb-Volga or alpha 2 beta 2 27(B9)Ala replaced by Asp. An unstable hemoglobin variant in three generations of a Dutch family.
[PMID 1225571] Haemoglobin Volga, beta27, (B9) Ala leads to Asp, a new highly unstable haemoglobin with a suppressed charge.
[PMID 3666141] Hemoglobin Grange-Blanche [beta 27(B9) Ala----Val], a new variant with normal expression and increased affinity for oxygen.
[PMID 9415844] Hb Siirt [beta 27(B9)Ala-->Gly]: a new, electrophoretically silent, hemoglobin variant.