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rs80357848

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;-) 0 Normal
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357848(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091766
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357848
ebirs80357848
HLIrs80357848
Exacrs80357848
Varsomers80357848
Maprs80357848
PheGenIrs80357848
hapmaprs80357848
1000 genomesrs80357848
hgdprs80357848
ensemblrs80357848
gopubmedrs80357848
geneviewrs80357848
scholarrs80357848
googlers80357848
pharmgkbrs80357848
gwascentralrs80357848
openSNPrs80357848
23andMers80357848
23andMe allrs80357848
SNP Nexus

SNPshotrs80357848
SNPdbers80357848
MSV3drs80357848
GWAS Ctlgrs80357848
Max Magnitude6
rs80357848, also known as 3883insA, c.3764_3765insA and p.Asn1255?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357848(A;A)
Alt rs80357848(A;A)
Reference rs80357848(;)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41243784dupT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031126.4, RCV000048324.3, RCV000129813.2,