rs41457351
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
Make rs41457351(C;T) |
Make rs41457351(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 173506 |
Gene | HBA2 |
is a | snp |
is | mentioned by |
dbSNP | rs41457351 |
dbSNP (classic) | rs41457351 |
ClinGen | rs41457351 |
ebi | rs41457351 |
HLI | rs41457351 |
Exac | rs41457351 |
Gnomad | rs41457351 |
Varsome | rs41457351 |
LitVar | rs41457351 |
Map | rs41457351 |
PheGenI | rs41457351 |
Biobank | rs41457351 |
1000 genomes | rs41457351 |
hgdp | rs41457351 |
ensembl | rs41457351 |
geneview | rs41457351 |
scholar | rs41457351 |
rs41457351 | |
pharmgkb | rs41457351 |
gwascentral | rs41457351 |
openSNP | rs41457351 |
23andMe | rs41457351 |
SNPshot | rs41457351 |
SNPdbe | rs41457351 |
MSV3d | rs41457351 |
GWAS Ctlg | rs41457351 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs41457351(T;T) |
Alt | rs41457351(T;T) |
Reference | Rs41457351(C;C) |
Significance | Untested |
Disease | |
Variation | info |
Gene | HBA2 |
CLNDBN | |
Reversed | 0 |
HGVS | NC_000016.9:g.223505C>T |
CLNSRC | |
CLNACC |
[PMID 7615398] Hb Anamosa or alpha 2(111)(G18)Ala-->Val beta 2 (alpha 2 mutation) and Hb Mulhacen or alpha 2(123)(H6)Ala-->Ser beta 2 (alpha 1 mutation) are two silent, stable variants detected by sequencing of amplified DNA.