rs33949106
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in complete genomics |
Make rs33949106(A;C) |
Make rs33949106(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 177003 |
Gene | HBA1 |
is a | snp |
is | mentioned by |
dbSNP | rs33949106 |
dbSNP (classic) | rs33949106 |
ClinGen | rs33949106 |
ebi | rs33949106 |
HLI | rs33949106 |
Exac | rs33949106 |
Gnomad | rs33949106 |
Varsome | rs33949106 |
LitVar | rs33949106 |
Map | rs33949106 |
PheGenI | rs33949106 |
Biobank | rs33949106 |
1000 genomes | rs33949106 |
hgdp | rs33949106 |
ensembl | rs33949106 |
geneview | rs33949106 |
scholar | rs33949106 |
rs33949106 | |
pharmgkb | rs33949106 |
gwascentral | rs33949106 |
openSNP | rs33949106 |
23andMe | rs33949106 |
SNPshot | rs33949106 |
SNPdbe | rs33949106 |
MSV3d | rs33949106 |
GWAS Ctlg | rs33949106 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs33949106(C;C) rs33949106(G;G) |
Alt | rs33949106(C;C) rs33949106(G;G) |
Reference | Rs33949106(A;A) |
Significance | Other |
Disease | HEMOGLOBIN THAILAND HEMOGLOBIN PORT HURON |
Variation | info |
Gene | HBA1 |
CLNDBN | HEMOGLOBIN THAILAND HEMOGLOBIN PORT HURON |
Reversed | 0 |
HGVS | NC_000016.9:g.227002A>C; NC_000016.9:g.227002A>G |
CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000017166.2, RCV000017185.2, |
[PMID 604316] Hemoglobin Thailand [alpha 56 (E 5) Lys leads to Thr]: a new abnormal human hemoglobin.
[PMID 1802882] Hb Port Huron [alpha 56 (E5)Lys----ARG]: a new alpha chain variant.