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rs397509248

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;CAGAAAG) 6 BRCA1 variant considered pathogenic for breast cancer
(ACAGAAA;ACAGAAA) 0 common in clinvar
Make rs397509248(-;-)
Make rs397509248(-;ACAGAAA)
ReferenceGRCh38 38.1/141
Chromosome17
Position43057053
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509248
ebirs397509248
HLIrs397509248
Exacrs397509248
Varsomers397509248
Maprs397509248
PheGenIrs397509248
hapmaprs397509248
1000 genomesrs397509248
hgdprs397509248
ensemblrs397509248
gopubmedrs397509248
geneviewrs397509248
scholarrs397509248
googlers397509248
pharmgkbrs397509248
gwascentralrs397509248
openSNPrs397509248
23andMers397509248
23andMe allrs397509248
SNP Nexus

SNPshotrs397509248
SNPdbers397509248
MSV3drs397509248
GWAS Ctlgrs397509248
Max Magnitude6
rs397509248, also known as 5389del7, c.5270_5276delACAGAA and Asp1757Glyfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs397509248(;)
Alt rs397509248(;)
Reference rs397509248(ACAGAAA;ACAGAAA)
Significance Untested
Disease Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41209070_41209076delTTTCTGT
CLNSRC ClinVar
CLNACC RCV000048894.2,