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rs80357973

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;ATTGGGCA) 6 BRCA1 variant considered pathogenic for breast cancer
(ATTGGGCA;ATTGGGCA) 0 common in clinvar


Make rs80357973(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43045793
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357973
ClinGenrs80357973
ebirs80357973
HLIrs80357973
Exacrs80357973
Varsomers80357973
Maprs80357973
PheGenIrs80357973
hapmaprs80357973
1000 genomesrs80357973
hgdprs80357973
ensemblrs80357973
gopubmedrs80357973
geneviewrs80357973
scholarrs80357973
googlers80357973
pharmgkbrs80357973
gwascentralrs80357973
openSNPrs80357973
23andMers80357973
23andMe allrs80357973
SNP Nexus

SNPshotrs80357973
SNPdbers80357973
MSV3drs80357973
GWAS Ctlgrs80357973
Max Magnitude6

BRCA1, c.5470_5477delATTGGGCA (p.Ile1824Aspfs)

ClinVar
Risk rs80357973(-;-)
Alt rs80357973(-;-)
Reference Rs80357973(ATTGGGCA;ATTGGGCA)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome Neoplasm of breast not provided
Variation info
Gene BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome Neoplasm of breast not provided
Reversed 1
HGVS NC_000017.10:g.41197810_41197817delTGCCCAAT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000049010.3, RCV000112668.3, RCV000131859.3, RCV000240711.1, RCV000480110.1,