rs35166721
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in complete genomics |
Make rs35166721(A;A) |
Make rs35166721(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5234176 |
Gene | HBD |
is a | snp |
is | mentioned by |
dbSNP | rs35166721 |
dbSNP (classic) | rs35166721 |
ClinGen | rs35166721 |
ebi | rs35166721 |
HLI | rs35166721 |
Exac | rs35166721 |
Gnomad | rs35166721 |
Varsome | rs35166721 |
LitVar | rs35166721 |
Map | rs35166721 |
PheGenI | rs35166721 |
Biobank | rs35166721 |
1000 genomes | rs35166721 |
hgdp | rs35166721 |
ensembl | rs35166721 |
geneview | rs35166721 |
scholar | rs35166721 |
rs35166721 | |
pharmgkb | rs35166721 |
gwascentral | rs35166721 |
openSNP | rs35166721 |
23andMe | rs35166721 |
SNPshot | rs35166721 |
SNPdbe | rs35166721 |
MSV3d | rs35166721 |
GWAS Ctlg | rs35166721 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs35166721(A;A) |
Alt | rs35166721(A;A) |
Reference | Rs35166721(G;G) |
Significance | Other |
Disease | HEMOGLOBIN A(2) MELBOURNE |
Variation | info |
Gene | HBD |
CLNDBN | HEMOGLOBIN A(2) MELBOURNE |
Reversed | 1 |
HGVS | NC_000011.9:g.5255406C>T |
CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016198.1, |
[PMID 4850239] A new delta chain variant, haemoglobin-A2-Melbourne or alpha2 delta2 43Glu-Lys(CD2).