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rs864622277

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;G) 6 Ovarian cancer susceptibility
(G;G) 0 common in clinvar


Make rs864622277(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position61847221
GeneBRIP1
is asnp
is mentioned by
dbSNPrs864622277
dbSNP (classic)rs864622277
ClinGenrs864622277
ebirs864622277
HLIrs864622277
Exacrs864622277
Gnomadrs864622277
Varsomers864622277
LitVarrs864622277
Maprs864622277
PheGenIrs864622277
Biobankrs864622277
1000 genomesrs864622277
hgdprs864622277
ensemblrs864622277
geneviewrs864622277
scholarrs864622277
googlers864622277
pharmgkbrs864622277
gwascentralrs864622277
openSNPrs864622277
23andMers864622277
SNPshotrs864622277
SNPdbers864622277
MSV3drs864622277
GWAS Ctlgrs864622277
Max Magnitude6

aka c.508-1G>C

Considered likely pathogenic in ClinVar for hereditary cancer (breast)

23andMe name: i709076

ClinVar
Risk rs864622277(C;C)
Alt rs864622277(C;C)
Reference Rs864622277(G;G)
Significance Probable-Pathogenic
Disease Familial cancer of breast Hereditary cancer-predisposing syndrome
Variation info
Gene BRIP1
CLNDBN Familial cancer of breast Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.59924582C>G
CLNSRC
CLNACC RCV000203783.1, RCV000449088.1,