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rs67284603

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs67284603(-;-)
Make rs67284603(-;T)
Make rs67284603(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094522
GeneBRCA1
is asnp
is mentioned by
dbSNPrs67284603
ebirs67284603
HLIrs67284603
Exacrs67284603
Varsomers67284603
Maprs67284603
PheGenIrs67284603
hapmaprs67284603
1000 genomesrs67284603
hgdprs67284603
ensemblrs67284603
gopubmedrs67284603
geneviewrs67284603
scholarrs67284603
googlers67284603
pharmgkbrs67284603
gwascentralrs67284603
openSNPrs67284603
23andMers67284603
23andMe allrs67284603
SNP Nexus

SNPshotrs67284603
SNPdbers67284603
MSV3drs67284603
GWAS Ctlgrs67284603
Max Magnitude6
rs67284603, also known as 1127insA, c.1008_1009insA and p.Thr336_Glu337?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs67284603(T;T)
Alt rs67284603(T;T)
Reference rs67284603(;)
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 0
HGVS NC_000017.10:g.41246540dupT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047307.2, RCV000111528.1,