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rs80357809

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357809(-;-)
Make rs80357809(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094265
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357809
ebirs80357809
HLIrs80357809
Exacrs80357809
Varsomers80357809
Maprs80357809
PheGenIrs80357809
hapmaprs80357809
1000 genomesrs80357809
hgdprs80357809
ensemblrs80357809
gopubmedrs80357809
geneviewrs80357809
scholarrs80357809
googlers80357809
pharmgkbrs80357809
gwascentralrs80357809
openSNPrs80357809
23andMers80357809
23andMe allrs80357809
SNP Nexus

SNPshotrs80357809
SNPdbers80357809
MSV3drs80357809
GWAS Ctlgrs80357809
Max Magnitude6
rs80357809, also known as 1384insA, c.1265_1266insA and p.Tyr422?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357809(A;A)
Alt rs80357809(A;A)
Reference rs80357809(;)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41246283dupT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047400.2, RCV000111577.1,