rs41322954
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in complete genomics |
Make rs41322954(A;C) |
Make rs41322954(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 177125 |
Gene | HBA1 |
is a | snp |
is | mentioned by |
dbSNP | rs41322954 |
dbSNP (classic) | rs41322954 |
ClinGen | rs41322954 |
ebi | rs41322954 |
HLI | rs41322954 |
Exac | rs41322954 |
Gnomad | rs41322954 |
Varsome | rs41322954 |
LitVar | rs41322954 |
Map | rs41322954 |
PheGenI | rs41322954 |
Biobank | rs41322954 |
1000 genomes | rs41322954 |
hgdp | rs41322954 |
ensembl | rs41322954 |
geneview | rs41322954 |
scholar | rs41322954 |
rs41322954 | |
pharmgkb | rs41322954 |
gwascentral | rs41322954 |
openSNP | rs41322954 |
23andMe | rs41322954 |
SNPshot | rs41322954 |
SNPdbe | rs41322954 |
MSV3d | rs41322954 |
GWAS Ctlg | rs41322954 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs41322954(C;C) |
Alt | rs41322954(C;C) |
Reference | Rs41322954(A;A) |
Significance | Other |
Disease | HEMOGLOBIN FUCHU-II |
Variation | info |
Gene | HBA1 |
CLNDBN | HEMOGLOBIN FUCHU-II |
Reversed | 0 |
HGVS | NC_000016.9:g.227124A>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000017216.2, |
[PMID 8718697] Two new alpha chain variants: Hb Fuchu-I [alpha 72(EF1)His-->Tyr] and Hb Fuchu-II [alpha 97(G4)Asn-->His].