rs2295190

plus

Geno	Mag	Summary
(G;G)	0	common
(G;T)	1.1	Slightly increased risk for ovarian cancer in women
(T;T)	1.2	Slightly increased risk for ovarian cancer in women

Reference

GRCh38 38.1/141

Chromosome

6

Position

152122609

Gene	ESR1, SYNE1

is a	snp
is	mentioned by
dbSNP	rs2295190
dbSNP (classic)	rs2295190
ClinGen	rs2295190
ebi	rs2295190
HLI	rs2295190
Exac	rs2295190
Gnomad	rs2295190
Varsome	rs2295190
LitVar	rs2295190
Map	rs2295190
PheGenI	rs2295190
Biobank	rs2295190
1000 genomes	rs2295190
hgdp	rs2295190
ensembl	rs2295190
geneview	rs2295190
scholar	rs2295190
google	rs2295190
pharmgkb	rs2295190
gwascentral	rs2295190
openSNP	rs2295190
23andMe	rs2295190
SNPshot	rs2295190
SNPdbe	rs2295190
MSV3d	rs2295190
GWAS Ctlg	rs2295190

GMAF

0.09275

Max Magnitude

1.2

?

(G;G) (G;T) (T;T)

28

rs2295190 is a SNP in the spectrin repeat containing, nuclear envelope 1 SYNE1 gene, located 19kb downstream of the estrogen receptor alpha ESR1 gene.

A large study (over 5,000 cases) of ovarian cancer samples from the Ovarian Cancer Association Consortium concluded that carriers of a rs2295190(T) allele are at slightly increased risk for ovarian cancer (odds ratio 1.09, CI: 1.02-1.17, p=0.017).[PMID 20056644 ]

ClinVar
Risk	Rs2295190(T;T)
Alt	Rs2295190(T;T)
Reference	Rs2295190(G;G)
Significance	Other
Disease	not specified Cerebellar ataxia Emery-Dreifuss muscular dystrophy
Variation	info
Gene	ESR1 SYNE1
CLNDBN	not specified Cerebellar ataxia Emery-Dreifuss muscular dystrophy
Reversed	0
HGVS	NC_000006.11:g.152443744G>T
CLNSRC	ClinVar University of Chicago
CLNACC	RCV000118476.4, RCV000325739.1, RCV000384879.1,