rs34708054
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
Make rs34708054(C;G) |
Make rs34708054(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 176777 |
Gene | HBA1 |
is a | snp |
is | mentioned by |
dbSNP | rs34708054 |
dbSNP (classic) | rs34708054 |
ClinGen | rs34708054 |
ebi | rs34708054 |
HLI | rs34708054 |
Exac | rs34708054 |
Gnomad | rs34708054 |
Varsome | rs34708054 |
LitVar | rs34708054 |
Map | rs34708054 |
PheGenI | rs34708054 |
Biobank | rs34708054 |
1000 genomes | rs34708054 |
hgdp | rs34708054 |
ensembl | rs34708054 |
geneview | rs34708054 |
scholar | rs34708054 |
rs34708054 | |
pharmgkb | rs34708054 |
gwascentral | rs34708054 |
openSNP | rs34708054 |
23andMe | rs34708054 |
SNPshot | rs34708054 |
SNPdbe | rs34708054 |
MSV3d | rs34708054 |
GWAS Ctlg | rs34708054 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs34708054(G;G) rs34708054(T;T) |
Alt | rs34708054(G;G) rs34708054(T;T) |
Reference | Rs34708054(C;C) |
Significance | Other |
Disease | HEMOGLOBIN NECKER ENFANTS-MALADES |
Variation | info |
Gene | HBA1 |
CLNDBN | HEMOGLOBIN NECKER ENFANTS-MALADES |
Reversed | 0 |
HGVS | NC_000016.9:g.226776C>T |
CLNSRC | HBVAR OMIM Allelic Variant |
CLNACC | RCV000017118.2, |
[PMID 7390863] A silent hemoglobin variant: hemoglobin necker enfants-malades alpha 20 (B1) His leads to Tyr.