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rs2295190

From SNPedia

Orientationplus
Stabilizedplus
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
ReferenceGRCh38 38.1/141
Chromosome6
Position152122609
GeneSYNE1
is asnp
is mentioned by
dbSNPrs2295190
ebirs2295190
HLIrs2295190
Exacrs2295190
Varsomers2295190
Maprs2295190
PheGenIrs2295190
hapmaprs2295190
1000 genomesrs2295190
hgdprs2295190
ensemblrs2295190
gopubmedrs2295190
geneviewrs2295190
scholarrs2295190
googlers2295190
pharmgkbrs2295190
gwascentralrs2295190
openSNPrs2295190
23andMers2295190
23andMe allrs2295190
SNP Nexus

SNPshotrs2295190
SNPdbers2295190
MSV3drs2295190
GWAS Ctlgrs2295190
GMAF0.09275
Max Magnitude1.2
? (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 20056644OA-icon.png]


GET Evidence
SYNE1-L8741M
aa_change Leu8741Met
aa_change_short L8741M
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.103737
summary



ClinVar
Risk rs2295190(T;T)
Alt rs2295190(T;T)
Reference rs2295190(G;G)
Significance Probable-non-pathogenic
Disease not specified
Variation info
Gene SYNE1
CLNDBN not specified
Reversed 0
HGVS NC_000006.11:g.152443744G>T
CLNSRC ClinVar University of Chicago
CLNACC RCV000118476.2,