rs36062788
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in complete genomics |
Make rs36062788(A;A) |
Make rs36062788(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 177006 |
Gene | HBA1 |
is a | snp |
is | mentioned by |
dbSNP | rs36062788 |
dbSNP (classic) | rs36062788 |
ClinGen | rs36062788 |
ebi | rs36062788 |
HLI | rs36062788 |
Exac | rs36062788 |
Gnomad | rs36062788 |
Varsome | rs36062788 |
LitVar | rs36062788 |
Map | rs36062788 |
PheGenI | rs36062788 |
Biobank | rs36062788 |
1000 genomes | rs36062788 |
hgdp | rs36062788 |
ensembl | rs36062788 |
geneview | rs36062788 |
scholar | rs36062788 |
rs36062788 | |
pharmgkb | rs36062788 |
gwascentral | rs36062788 |
openSNP | rs36062788 |
23andMe | rs36062788 |
SNPshot | rs36062788 |
SNPdbe | rs36062788 |
MSV3d | rs36062788 |
GWAS Ctlg | rs36062788 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs36062788(A;A) |
Alt | rs36062788(A;A) |
Reference | Rs36062788(G;G) |
Significance | Other |
Disease | HEMOGLOBIN NORFOLK HEMOGLOBIN J (NORFOLK) HEMOGLOBIN KAGOSHIMA HEMOGLOBIN NISHIK |
Variation | info |
Gene | HBA1 |
CLNDBN | HEMOGLOBIN NORFOLK HEMOGLOBIN J (NORFOLK) HEMOGLOBIN KAGOSHIMA HEMOGLOBIN NISHIK |
Reversed | 0 |
HGVS | NC_000016.9:g.227005G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000017121.3, RCV000017122.3, RCV000017123.3, RCV000017124.3, |
[PMID 1150256] Haemoglobin norfolk in nepali gorkhas.
[PMID 5927878] Hemoglobin Kagoshima: an example of hemoglobin Norfolk in a Japanese family.