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rs121913043

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TG;TG) 0 common in clinvar
Make rs121913043(GC;GC)
Make rs121913043(GC;TG)
ReferenceGRCh38 38.1/141
Chromosome6
Position152061094
GeneESR1
is asnp
is mentioned by
dbSNPrs121913043
ebirs121913043
HLIrs121913043
Exacrs121913043
Varsomers121913043
Maprs121913043
PheGenIrs121913043
hapmaprs121913043
1000 genomesrs121913043
hgdprs121913043
ensemblrs121913043
gopubmedrs121913043
geneviewrs121913043
scholarrs121913043
googlers121913043
pharmgkbrs121913043
gwascentralrs121913043
openSNPrs121913043
23andMers121913043
23andMe allrs121913043
SNP Nexus

SNPshotrs121913043
SNPdbers121913043
MSV3drs121913043
GWAS Ctlgrs121913043
Max Magnitude0
OMIM133430
Desc
Variant0001
Relatedalso
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,