rs121913043
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TG;TG) | 0 | common in clinvar |
Make rs121913043(GC;GC) |
Make rs121913043(GC;TG) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 152061094 |
Gene | ESR1 |
is a | snp |
is | mentioned by |
dbSNP | rs121913043 |
dbSNP (classic) | rs121913043 |
ClinGen | rs121913043 |
ebi | rs121913043 |
HLI | rs121913043 |
Exac | rs121913043 |
Gnomad | rs121913043 |
Varsome | rs121913043 |
LitVar | rs121913043 |
Map | rs121913043 |
PheGenI | rs121913043 |
Biobank | rs121913043 |
1000 genomes | rs121913043 |
hgdp | rs121913043 |
ensembl | rs121913043 |
geneview | rs121913043 |
scholar | rs121913043 |
rs121913043 | |
pharmgkb | rs121913043 |
gwascentral | rs121913043 |
openSNP | rs121913043 |
23andMe | rs121913043 |
SNPshot | rs121913043 |
SNPdbe | rs121913043 |
MSV3d | rs121913043 |
GWAS Ctlg | rs121913043 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121913043(GC;GC) |
Alt | rs121913043(GC;GC) |
Reference | Rs121913043(TG;TG) |
Significance | Pathogenic |
Disease | Estrogen receptor mutant |
Variation | info |
Gene | ESR1 |
CLNDBN | Estrogen receptor mutant, temperature-sensitive |
Reversed | 0 |
HGVS | NC_000006.11:g.152382229_152382230delTGinsGC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000018058.29, |