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rs273899703

From SNPedia

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


Make rs273899703(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092305
GeneBRCA1
is asnp
is mentioned by
dbSNPrs273899703
ebirs273899703
HLIrs273899703
Exacrs273899703
Varsomers273899703
Maprs273899703
PheGenIrs273899703
hapmaprs273899703
1000 genomesrs273899703
hgdprs273899703
ensemblrs273899703
gopubmedrs273899703
geneviewrs273899703
scholarrs273899703
googlers273899703
pharmgkbrs273899703
gwascentralrs273899703
openSNPrs273899703
23andMers273899703
23andMe allrs273899703
SNP Nexus

SNPshotrs273899703
SNPdbers273899703
MSV3drs273899703
GWAS Ctlgrs273899703
Max Magnitude6
rs273899703, also known as 3345delA, c.3226_3226delA and p.Arg1076Glufs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs273899703(;)
Alt rs273899703(;)
Reference rs273899703(A;A)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41244322delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048104.2, RCV000112032.1,