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rs80357690

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;TG) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357690(-;-)
Make rs80357690(TG;TG)
ReferenceGRCh38 38.1/142
Chromosome17
Position43094577
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357690
ebirs80357690
HLIrs80357690
Exacrs80357690
Varsomers80357690
Maprs80357690
PheGenIrs80357690
hapmaprs80357690
1000 genomesrs80357690
hgdprs80357690
ensemblrs80357690
gopubmedrs80357690
geneviewrs80357690
scholarrs80357690
googlers80357690
pharmgkbrs80357690
gwascentralrs80357690
openSNPrs80357690
23andMers80357690
23andMe allrs80357690
SNP Nexus

SNPshotrs80357690
SNPdbers80357690
MSV3drs80357690
GWAS Ctlgrs80357690
Max Magnitude6
rs80357690, also known as 1072delAins3, c.953_954insTG and p.His318?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357690(GT;GT)
Alt rs80357690(GT;GT)
Reference rs80357690(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41246594_41246595insCA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000111517.1,