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rs730881618

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;C) 6 BRCA2 variant considered pathogenic for breast cancer
(C;C) 0 common in clinvar
(I;I) 0 common genotype


Make rs730881618(-;-)
ReferenceGRCh38.p2 38.2/144
Chromosome13
Position32398241
GeneBRCA2
is asnp
is mentioned by
dbSNPrs730881618
dbSNP (classic)rs730881618
ClinGenrs730881618
ebirs730881618
HLIrs730881618
Exacrs730881618
Gnomadrs730881618
Varsomers730881618
LitVarrs730881618
Maprs730881618
PheGenIrs730881618
Biobankrs730881618
1000 genomesrs730881618
hgdprs730881618
ensemblrs730881618
geneviewrs730881618
scholarrs730881618
googlers730881618
pharmgkbrs730881618
gwascentralrs730881618
openSNPrs730881618
23andMers730881618
SNPshotrs730881618
SNPdbers730881618
MSV3drs730881618
GWAS Ctlgrs730881618
Max Magnitude6

aka c.9728delC

ClinVar
Risk rs730881618(-;-)
Alt rs730881618(-;-)
Reference Rs730881618(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32972378delC
CLNSRC
CLNACC RCV000160312.1, RCV000241111.2,