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rs730881619

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;ATTT) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs730881619(ATTT;ATTT)
ReferenceGRCh38.p2 38.2/144
Chromosome13
Position32398407
GeneBRCA2
is asnp
is mentioned by
dbSNPrs730881619
dbSNP (classic)rs730881619
ClinGenrs730881619
ebirs730881619
HLIrs730881619
Exacrs730881619
Gnomadrs730881619
Varsomers730881619
LitVarrs730881619
Maprs730881619
PheGenIrs730881619
Biobankrs730881619
1000 genomesrs730881619
hgdprs730881619
ensemblrs730881619
geneviewrs730881619
scholarrs730881619
googlers730881619
pharmgkbrs730881619
gwascentralrs730881619
openSNPrs730881619
23andMers730881619
SNPshotrs730881619
SNPdbers730881619
MSV3drs730881619
GWAS Ctlgrs730881619
Max Magnitude6
ClinVar
Risk rs730881619(ATTT;ATTT)
Alt rs730881619(ATTT;ATTT)
Reference Rs730881619(-;-)
Significance Pathogenic
Disease Familial cancer of breast Hereditary cancer-predisposing syndrome Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome
Reversed 0
HGVS NC_000013.10:g.32972541_32972544dupATTT
CLNSRC
CLNACC RCV000160313.1, RCV000222723.1, RCV000241133.1, RCV000470171.1,