rs121913044

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;T)	3	Carrier for an estrogen resistance mutation
(T;T)	0	common in clinvar

Make rs121913044(A;A)

Reference

GRCh38 38.1/141

Chromosome

6

Position

151944503

Gene

ESR1

is a	snp
is	mentioned by
dbSNP	rs121913044
dbSNP (classic)	rs121913044
ClinGen	rs121913044
ebi	rs121913044
HLI	rs121913044
Exac	rs121913044
Gnomad	rs121913044
Varsome	rs121913044
LitVar	rs121913044
Map	rs121913044
PheGenI	rs121913044
Biobank	rs121913044
1000 genomes	rs121913044
hgdp	rs121913044
ensembl	rs121913044
geneview	rs121913044
scholar	rs121913044
google	rs121913044
pharmgkb	rs121913044
gwascentral	rs121913044
openSNP	rs121913044
23andMe	rs121913044
SNPshot	rs121913044
SNPdbe	rs121913044
MSV3d	rs121913044
GWAS Ctlg	rs121913044

Max Magnitude

3

see OMIM 133430.0003

OMIM	133430
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121913044(A;A)
Alt	rs121913044(A;A)
Reference	Rs121913044(T;T)
Significance	Pathogenic
Disease	Estrogen resistance
Variation	info
Gene	ESR1
CLNDBN	Estrogen resistance
Reversed	0
HGVS	NC_000006.11:g.152265638T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018061.27,