rs36104787
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
Make rs36104787(C;G) |
Make rs36104787(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 177050 |
Gene | HBA1 |
is a | snp |
is | mentioned by |
dbSNP | rs36104787 |
dbSNP (classic) | rs36104787 |
ClinGen | rs36104787 |
ebi | rs36104787 |
HLI | rs36104787 |
Exac | rs36104787 |
Gnomad | rs36104787 |
Varsome | rs36104787 |
LitVar | rs36104787 |
Map | rs36104787 |
PheGenI | rs36104787 |
Biobank | rs36104787 |
1000 genomes | rs36104787 |
hgdp | rs36104787 |
ensembl | rs36104787 |
geneview | rs36104787 |
scholar | rs36104787 |
rs36104787 | |
pharmgkb | rs36104787 |
gwascentral | rs36104787 |
openSNP | rs36104787 |
23andMe | rs36104787 |
SNPshot | rs36104787 |
SNPdbe | rs36104787 |
MSV3d | rs36104787 |
GWAS Ctlg | rs36104787 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs36104787(G;G) rs36104787(T;T) |
Alt | rs36104787(G;G) rs36104787(T;T) |
Reference | Rs36104787(C;C) |
Significance | Other |
Disease | HEMOGLOBIN FUCHU-I |
Variation | info |
Gene | HBA1 |
CLNDBN | HEMOGLOBIN FUCHU-I |
Reversed | 0 |
HGVS | NC_000016.9:g.227049C>T |
CLNSRC | HBVAR OMIM Allelic Variant |
CLNACC | RCV000017215.2, |
[PMID 8718697] Two new alpha chain variants: Hb Fuchu-I [alpha 72(EF1)His-->Tyr] and Hb Fuchu-II [alpha 97(G4)Asn-->His].