rs63750294
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs63750294(C;C) |
Make rs63750294(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 172967 |
Gene | HBA2 |
is a | snp |
is | mentioned by |
dbSNP | rs63750294 |
dbSNP (classic) | rs63750294 |
ClinGen | rs63750294 |
ebi | rs63750294 |
HLI | rs63750294 |
Exac | rs63750294 |
Gnomad | rs63750294 |
Varsome | rs63750294 |
LitVar | rs63750294 |
Map | rs63750294 |
PheGenI | rs63750294 |
Biobank | rs63750294 |
1000 genomes | rs63750294 |
hgdp | rs63750294 |
ensembl | rs63750294 |
geneview | rs63750294 |
scholar | rs63750294 |
rs63750294 | |
pharmgkb | rs63750294 |
gwascentral | rs63750294 |
openSNP | rs63750294 |
23andMe | rs63750294 |
SNPshot | rs63750294 |
SNPdbe | rs63750294 |
MSV3d | rs63750294 |
GWAS Ctlg | rs63750294 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs63750294(C;C) |
Alt | rs63750294(C;C) |
Reference | Rs63750294(G;G) |
Significance | Untested |
Disease | |
Variation | info |
Gene | HBA2 |
CLNDBN | |
Reversed | 0 |
HGVS | NC_000016.9:g.222966G>C |
CLNSRC | |
CLNACC |
[PMID 852596] Haemoglobin Handsworth alpha 18 (A16) glycine leads to arginne.
[PMID 4030381] Hemoglobin Handsworth or alpha2 18(A16)Gly----Arg beta2 in a Saudi newborn.
[PMID 7216818] Hemoglobin Handsworth (gamma 18 (A16) Gly leads to Arg) in a Chinese.