rs35717854
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in complete genomics |
Make rs35717854(C;C) |
Make rs35717854(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5254292 |
Gene | HBG2 |
is a | snp |
is | mentioned by |
dbSNP | rs35717854 |
dbSNP (classic) | rs35717854 |
ClinGen | rs35717854 |
ebi | rs35717854 |
HLI | rs35717854 |
Exac | rs35717854 |
Gnomad | rs35717854 |
Varsome | rs35717854 |
LitVar | rs35717854 |
Map | rs35717854 |
PheGenI | rs35717854 |
Biobank | rs35717854 |
1000 genomes | rs35717854 |
hgdp | rs35717854 |
ensembl | rs35717854 |
geneview | rs35717854 |
scholar | rs35717854 |
rs35717854 | |
pharmgkb | rs35717854 |
gwascentral | rs35717854 |
openSNP | rs35717854 |
23andMe | rs35717854 |
SNPshot | rs35717854 |
SNPdbe | rs35717854 |
MSV3d | rs35717854 |
GWAS Ctlg | rs35717854 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs35717854(C;C) |
Alt | rs35717854(C;C) |
Reference | Rs35717854(G;G) |
Significance | Other |
Disease | HEMOGLOBIN F (MACEDONIA II) |
Variation | info |
Gene | HBG2 |
CLNDBN | HEMOGLOBIN F (MACEDONIA II) |
Reversed | 1 |
HGVS | NC_000011.9:g.5275522C>G |
CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016135.1, |
[PMID 7713741] Hb F-Macedonia-II [G gamma 104(G6)Lys-->Asn]: a new gamma chain variant.