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rs273899700

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AGCC;AGCC) 0 common in clinvar
(GA;AGCC) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs273899700(AGCC;GA)
Make rs273899700(GA;GA)
ReferenceGRCh38 38.1/142
Chromosome17
Position43092414
GeneBRCA1
is asnp
is mentioned by
dbSNPrs273899700
ebirs273899700
HLIrs273899700
Exacrs273899700
Varsomers273899700
Maprs273899700
PheGenIrs273899700
hapmaprs273899700
1000 genomesrs273899700
hgdprs273899700
ensemblrs273899700
gopubmedrs273899700
geneviewrs273899700
scholarrs273899700
googlers273899700
pharmgkbrs273899700
gwascentralrs273899700
openSNPrs273899700
23andMers273899700
23andMe allrs273899700
SNP Nexus

SNPshotrs273899700
SNPdbers273899700
MSV3drs273899700
GWAS Ctlgrs273899700
Max Magnitude6
rs273899700, also known as 3233delAGCCinsGA, c.3114_3117delAGCCinsGA and p.Glu1038_Ala1039GluLysfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs273899700(GA;GA)
Alt rs273899700(GA;GA)
Reference rs273899700(AGCC;AGCC)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41244431_41244434delGGCTinsTC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000112004.1,