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rs2227945

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
(G;G) 2
(T;T) 0
Make rs2227945(A;G)
ReferenceGRCh38 38.1/142
Chromosome17
Position43092113
GeneBRCA1
is asnp
is mentioned by
dbSNPrs2227945
ebirs2227945
HLIrs2227945
Exacrs2227945
Varsomers2227945
Maprs2227945
PheGenIrs2227945
hapmaprs2227945
1000 genomesrs2227945
hgdprs2227945
ensemblrs2227945
gopubmedrs2227945
geneviewrs2227945
scholarrs2227945
googlers2227945
pharmgkbrs2227945
gwascentralrs2227945
openSNPrs2227945
23andMers2227945
23andMe allrs2227945
SNP Nexus

SNPshotrs2227945
SNPdbers2227945
MSV3drs2227945
GWAS Ctlgrs2227945
GMAF0.01102
Max Magnitude2
? (A;A) (A;G) (G;G) 28
This SNP, a variant in the BRCA1 gene, is 1 of 25 SNPs reported to represent independently minor, but cumulatively significant, increased risk for breast cancer. [PMID 17341484]

For details of all 25 SNPs in this group, along with the two methods used to calculate overall risk estimates for breast cancer, refer to the SNPedia breast cancer entry.

For this particular SNP, the risk (minor) allele is (G).

Neighborrs16942
Distance130
Neighborrs4986852
Distance299


ClinVar
Risk rs2227945(G;G)
Alt rs2227945(G;G)
Reference rs2227945(A;A)
Significance Other
Disease not provided Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer not specified Familial cancer of breast Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN not provided Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 not specified Familial cancer of breast Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41244130T>C
CLNSRC Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation
CLNACC RCV000034741.3, RCV000048187.6, RCV000112092.5, RCV000120277.6, RCV000157733.1, RCV000162594.1,



GET Evidence
BRCA1-S1140G
aa_change Ser1140Gly
aa_change_short S1140G
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0116193
summary