rs34472107
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
Make rs34472107(C;T) |
Make rs34472107(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 177325 |
Gene | HBA1 |
is a | snp |
is | mentioned by |
dbSNP | rs34472107 |
dbSNP (classic) | rs34472107 |
ClinGen | rs34472107 |
ebi | rs34472107 |
HLI | rs34472107 |
Exac | rs34472107 |
Gnomad | rs34472107 |
Varsome | rs34472107 |
LitVar | rs34472107 |
Map | rs34472107 |
PheGenI | rs34472107 |
Biobank | rs34472107 |
1000 genomes | rs34472107 |
hgdp | rs34472107 |
ensembl | rs34472107 |
geneview | rs34472107 |
scholar | rs34472107 |
rs34472107 | |
pharmgkb | rs34472107 |
gwascentral | rs34472107 |
openSNP | rs34472107 |
23andMe | rs34472107 |
SNPshot | rs34472107 |
SNPdbe | rs34472107 |
MSV3d | rs34472107 |
GWAS Ctlg | rs34472107 |
Merged from | Rs63751114 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs34472107(G;G) rs34472107(T;T) |
Alt | rs34472107(G;G) rs34472107(T;T) |
Reference | Rs34472107(C;C) |
Significance | Other |
Disease | HEMOGLOBIN MELUSINE |
Variation | info |
Gene | HBA1 |
CLNDBN | HEMOGLOBIN MELUSINE |
Reversed | 0 |
HGVS | NC_000016.9:g.227324C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000017203.2, |
[PMID 8294199] Hb Melusine [alpha 114(GH2)Pro-->Ser]: a new neutral hemoglobin variant.