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rs80357576

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357576(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094243
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357576
dbSNP (classic)rs80357576
ClinGenrs80357576
ebirs80357576
HLIrs80357576
Exacrs80357576
Gnomadrs80357576
Varsomers80357576
LitVarrs80357576
Maprs80357576
PheGenIrs80357576
Biobankrs80357576
1000 genomesrs80357576
hgdprs80357576
ensemblrs80357576
geneviewrs80357576
scholarrs80357576
googlers80357576
pharmgkbrs80357576
gwascentralrs80357576
openSNPrs80357576
23andMers80357576
SNPshotrs80357576
SNPdbers80357576
MSV3drs80357576
GWAS Ctlgrs80357576
Max Magnitude6

aka c.1287dupA

ClinVar
Risk rs80357576(A;A)
Alt rs80357576(A;A)
Reference Rs80357576(-;-)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer not provided
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 not provided
Reversed 1
HGVS NC_000017.10:g.41246261dupT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047404.4, RCV000111582.3, RCV000235124.2,