rs34504387
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in complete genomics |
Make rs34504387(C;C) |
Make rs34504387(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 176771 |
Gene | HBA1 |
is a | snp |
is | mentioned by |
dbSNP | rs34504387 |
dbSNP (classic) | rs34504387 |
ClinGen | rs34504387 |
ebi | rs34504387 |
HLI | rs34504387 |
Exac | rs34504387 |
Gnomad | rs34504387 |
Varsome | rs34504387 |
LitVar | rs34504387 |
Map | rs34504387 |
PheGenI | rs34504387 |
Biobank | rs34504387 |
1000 genomes | rs34504387 |
hgdp | rs34504387 |
ensembl | rs34504387 |
geneview | rs34504387 |
scholar | rs34504387 |
rs34504387 | |
pharmgkb | rs34504387 |
gwascentral | rs34504387 |
openSNP | rs34504387 |
23andMe | rs34504387 |
SNPshot | rs34504387 |
SNPdbe | rs34504387 |
MSV3d | rs34504387 |
GWAS Ctlg | rs34504387 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs34504387(C;C) rs34504387(T;T) |
Alt | rs34504387(C;C) rs34504387(T;T) |
Reference | Rs34504387(G;G) |
Significance | Other |
Disease | HEMOGLOBIN HANDSWORTH |
Variation | info |
Gene | HBA1 |
CLNDBN | HEMOGLOBIN HANDSWORTH |
Reversed | 0 |
HGVS | NC_000016.9:g.226770G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000017037.2, |
[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.