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rs786202998

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs786202998(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position43091030
GeneBRCA1
is asnp
is mentioned by
dbSNPrs786202998
dbSNP (classic)rs786202998
ClinGenrs786202998
ebirs786202998
HLIrs786202998
Exacrs786202998
Gnomadrs786202998
Varsomers786202998
LitVarrs786202998
Maprs786202998
PheGenIrs786202998
Biobankrs786202998
1000 genomesrs786202998
hgdprs786202998
ensemblrs786202998
geneviewrs786202998
scholarrs786202998
googlers786202998
pharmgkbrs786202998
gwascentralrs786202998
openSNPrs786202998
23andMers786202998
SNPshotrs786202998
SNPdbers786202998
MSV3drs786202998
GWAS Ctlgrs786202998
Max Magnitude6
ClinVar
Risk rs786202998(A;A) rs786202998(T;T)
Alt rs786202998(A;A) rs786202998(T;T)
Reference Rs786202998(G;G)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Breast-ovarian cancer not specified
Variation info
Gene BRCA1
CLNDBN Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 1 not specified
Reversed 1
HGVS NC_000017.10:g.41243047C>A; NC_000017.10:g.41243047C>T
CLNSRC
CLNACC RCV000166099.1, RCV000241336.1, RCV000235899.1,