rs34977235
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in complete genomics |
Make rs34977235(A;T) |
Make rs34977235(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5234163 |
Gene | HBD |
is a | snp |
is | mentioned by |
dbSNP | rs34977235 |
dbSNP (classic) | rs34977235 |
ClinGen | rs34977235 |
ebi | rs34977235 |
HLI | rs34977235 |
Exac | rs34977235 |
Gnomad | rs34977235 |
Varsome | rs34977235 |
LitVar | rs34977235 |
Map | rs34977235 |
PheGenI | rs34977235 |
Biobank | rs34977235 |
1000 genomes | rs34977235 |
hgdp | rs34977235 |
ensembl | rs34977235 |
geneview | rs34977235 |
scholar | rs34977235 |
rs34977235 | |
pharmgkb | rs34977235 |
gwascentral | rs34977235 |
openSNP | rs34977235 |
23andMe | rs34977235 |
SNPshot | rs34977235 |
SNPdbe | rs34977235 |
MSV3d | rs34977235 |
GWAS Ctlg | rs34977235 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs34977235(T;T) |
Alt | rs34977235(T;T) |
Reference | Rs34977235(A;A) |
Significance | Other |
Disease | HEMOGLOBIN A(2) PARKVILLE |
Variation | info |
Gene | HBD |
CLNDBN | HEMOGLOBIN A(2) PARKVILLE |
Reversed | 1 |
HGVS | NC_000011.9:g.5255393T>A |
CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016218.1, |
[PMID 1802883] Hb A2-Parkville or delta 47(CD6)Asp----Val, a new delta chain variant.