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rs786203494

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs786203494(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome13
Position32339269
GeneBRCA2
is asnp
is mentioned by
dbSNPrs786203494
dbSNP (classic)rs786203494
ClinGenrs786203494
ebirs786203494
HLIrs786203494
Exacrs786203494
Gnomadrs786203494
Varsomers786203494
LitVarrs786203494
Maprs786203494
PheGenIrs786203494
Biobankrs786203494
1000 genomesrs786203494
hgdprs786203494
ensemblrs786203494
geneviewrs786203494
scholarrs786203494
googlers786203494
pharmgkbrs786203494
gwascentralrs786203494
openSNPrs786203494
23andMers786203494
SNPshotrs786203494
SNPdbers786203494
MSV3drs786203494
GWAS Ctlgrs786203494
Max Magnitude6

aka c.4914dupA (p.Val1639Serfs)

ClinVar
Risk rs786203494(A;A)
Alt rs786203494(A;A)
Reference Rs786203494(-;-)
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.32913406dupA
CLNSRC
CLNACC RCV000166820.1, RCV000240990.1,