Rs55770810

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dbSNPrs55770810
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hgdprs55770810
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SNP Nexus

GeneBRCA1
Chromosome17
Orientationminus
Position38469473
GenotypeEffect
rs55770810(C;C)normal
rs55770810(C;T)carrier of BRCA1 variant
rs55770810(T;T)carrier of two copies of BRCA1 variant; likely to be at higher risk for breast/ovarian cancer


Genotypes Magnitude Summary
Rs55770810(C;C) 00 normal
Rs55770810(C;T) 2.52.5 carrier of BRCA1 variant
Rs55770810(T;T) 3.53.5 carrier of two copies of BRCA1 variant; likely to be at higher risk for breast/ovarian cancer
rs55770810, also known as R1699W, is a SNP in the BRCA1 gene. The more common (C) allele encodes the amino acid arginine (R), while the rare (T) allele encodes a tryptophan (W).

An analysis of sequence variants of unknown clinical significance in the BRCA1 and BRCA2 genes concluded that this SNP was among the top 10 (over both genes) likely to lead to breast cancer, with a calculated odds of over 1,000:1 against this just being a spurious association. Although the clinical importance has not been proven, this may still be of use for genetic counseling.[PMID 17924331]

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