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rs786203430

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;GAAA) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs786203430(GAAA;GAAA)
ReferenceGRCh38.p2 38.2/146
Chromosome13
Position32340725
GeneBRCA2
is asnp
is mentioned by
dbSNPrs786203430
dbSNP (classic)rs786203430
ClinGenrs786203430
ebirs786203430
HLIrs786203430
Exacrs786203430
Gnomadrs786203430
Varsomers786203430
LitVarrs786203430
Maprs786203430
PheGenIrs786203430
Biobankrs786203430
1000 genomesrs786203430
hgdprs786203430
ensemblrs786203430
geneviewrs786203430
scholarrs786203430
googlers786203430
pharmgkbrs786203430
gwascentralrs786203430
openSNPrs786203430
23andMers786203430
SNPshotrs786203430
SNPdbers786203430
MSV3drs786203430
GWAS Ctlgrs786203430
Max Magnitude6

aka c.6367_6370dupGAAA

ClinVar
Risk rs786203430(GAAA;GAAA)
Alt rs786203430(GAAA;GAAA)
Reference Rs786203430(-;-)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32914859_32914862dupGAAA
CLNSRC
CLNACC RCV000166732.1, RCV000241495.1,