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rs730880287

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;AG) 6 BRCA1 variant considered pathogenic for breast cancer
(AG;AG) 0 common in clinvar
Make rs730880287(AG;GCC)
Make rs730880287(GCC;GCC)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position43071076
GeneBRCA1
is asnp
is mentioned by
dbSNPrs730880287
dbSNP (classic)rs730880287
ClinGenrs730880287
ebirs730880287
HLIrs730880287
Exacrs730880287
Gnomadrs730880287
Varsomers730880287
LitVarrs730880287
Maprs730880287
PheGenIrs730880287
Biobankrs730880287
1000 genomesrs730880287
hgdprs730880287
ensemblrs730880287
geneviewrs730880287
scholarrs730880287
googlers730880287
pharmgkbrs730880287
gwascentralrs730880287
openSNPrs730880287
23andMers730880287
SNPshotrs730880287
SNPdbers730880287
MSV3drs730880287
GWAS Ctlgrs730880287
Max Magnitude6
ClinVar
Risk rs730880287(GCC;GCC)
Alt rs730880287(GCC;GCC)
Reference Rs730880287(AG;AG)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41223093_41223094delCTinsGGC
CLNSRC
CLNACC RCV000157652.2,