rs34410516
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in complete genomics |
Make rs34410516(C;C) |
Make rs34410516(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 176740 |
Gene | HBA1 |
is a | snp |
is | mentioned by |
dbSNP | rs34410516 |
dbSNP (classic) | rs34410516 |
ClinGen | rs34410516 |
ebi | rs34410516 |
HLI | rs34410516 |
Exac | rs34410516 |
Gnomad | rs34410516 |
Varsome | rs34410516 |
LitVar | rs34410516 |
Map | rs34410516 |
PheGenI | rs34410516 |
Biobank | rs34410516 |
1000 genomes | rs34410516 |
hgdp | rs34410516 |
ensembl | rs34410516 |
geneview | rs34410516 |
scholar | rs34410516 |
rs34410516 | |
pharmgkb | rs34410516 |
gwascentral | rs34410516 |
openSNP | rs34410516 |
23andMe | rs34410516 |
SNPshot | rs34410516 |
SNPdbe | rs34410516 |
MSV3d | rs34410516 |
GWAS Ctlg | rs34410516 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs34410516(C;C) |
Alt | rs34410516(C;C) |
Reference | Rs34410516(G;G) |
Significance | Other |
Disease | HEMOGLOBIN TATRAS |
Variation | info |
Gene | HBA1 |
CLNDBN | HEMOGLOBIN TATRAS |
Reversed | 0 |
HGVS | NC_000016.9:g.226739G>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000017207.2, |
[PMID 7713746] Two new alpha chain variants found during glycated hemoglobin screening: Hb Tatras [alpha 7(A5)Lys-->Asn] and HB Lisbon [alpha 23(B4)Glu-->Asp].