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rs80358044

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80358044(A;A)
Make rs80358044(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43074330
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80358044
ebirs80358044
HLIrs80358044
Exacrs80358044
Varsomers80358044
Maprs80358044
PheGenIrs80358044
hapmaprs80358044
1000 genomesrs80358044
hgdprs80358044
ensemblrs80358044
gopubmedrs80358044
geneviewrs80358044
scholarrs80358044
googlers80358044
pharmgkbrs80358044
gwascentralrs80358044
openSNPrs80358044
23andMers80358044
23andMe allrs80358044
SNP Nexus

SNPshotrs80358044
SNPdbers80358044
MSV3drs80358044
GWAS Ctlgrs80358044
Max Magnitude0
ClinVar
Risk rs80358044(A,T;A,T)
Alt rs80358044(A,T;A,T)
Reference rs80358044(G;G)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome not provided Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA1
CLNDBN Hereditary cancer-predisposing syndrome not provided Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome
Reversed 1
HGVS NC_000017.10:g.41226347C>A; NC_000017.10:g.41226347C>T
CLNSRC Breast Cancer Information Core (BRCA1) Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation
CLNACC RCV000164823.1, RCV000048623.5, RCV000077582.4, RCV000131822.2, RCV000225764.1,