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rs80357629

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;-) 0 common/normal
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357629(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43045711
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357629
dbSNP (classic)rs80357629
ClinGenrs80357629
ebirs80357629
HLIrs80357629
Exacrs80357629
Gnomadrs80357629
Varsomers80357629
LitVarrs80357629
Maprs80357629
PheGenIrs80357629
Biobankrs80357629
1000 genomesrs80357629
hgdprs80357629
ensemblrs80357629
geneviewrs80357629
scholarrs80357629
googlers80357629
pharmgkbrs80357629
gwascentralrs80357629
openSNPrs80357629
23andMers80357629
SNPshotrs80357629
SNPdbers80357629
MSV3drs80357629
GWAS Ctlgrs80357629
Max Magnitude6
OMIM113705
Desc
Variant0019
Relatedalso
ClinVar
Risk rs80357629(A;A)
Alt rs80357629(A;A)
Reference Rs80357629(-;-)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not provided
Reversed 1
HGVS NC_000017.10:g.41197729dupT
CLNSRC Breast Cancer Information Core (BRCA1) OMIM Allelic Variant
CLNACC RCV000049050.4, RCV000074357.11, RCV000163976.2, RCV000265181.1,