rs41507451
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
Make rs41507451(A;A) |
Make rs41507451(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 173594 |
Gene | HBA2 |
is a | snp |
is | mentioned by |
dbSNP | rs41507451 |
dbSNP (classic) | rs41507451 |
ClinGen | rs41507451 |
ebi | rs41507451 |
HLI | rs41507451 |
Exac | rs41507451 |
Gnomad | rs41507451 |
Varsome | rs41507451 |
LitVar | rs41507451 |
Map | rs41507451 |
PheGenI | rs41507451 |
Biobank | rs41507451 |
1000 genomes | rs41507451 |
hgdp | rs41507451 |
ensembl | rs41507451 |
geneview | rs41507451 |
scholar | rs41507451 |
rs41507451 | |
pharmgkb | rs41507451 |
gwascentral | rs41507451 |
openSNP | rs41507451 |
23andMe | rs41507451 |
SNPshot | rs41507451 |
SNPdbe | rs41507451 |
MSV3d | rs41507451 |
GWAS Ctlg | rs41507451 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs41507451(A;A) |
Alt | rs41507451(A;A) |
Reference | Rs41507451(C;C) |
Significance | Other |
Disease | HEMOGLOBIN NATAL |
Variation | info |
Gene | HBA2 |
CLNDBN | HEMOGLOBIN NATAL |
Reversed | 0 |
HGVS | NC_000016.9:g.223593C>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000016944.1, |
[PMID 3191134] Hb natal or alpha 2(minus Tyr-Arg) beta 2: a high oxygen affinity alpha chain variant with a deleted carboxy-terminus resulting from a TAC----TAA (Tyr----terminating codon) mutation in codon alpha 140.