Have questions? Visit https://www.reddit.com/r/SNPedia

rs786203754

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;T) 6 BRCA1 variant considered pathogenic for breast cancer
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
(T;T) 0 common in clinvar


Make rs786203754(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position43067655
GeneBRCA1
is asnp
is mentioned by
dbSNPrs786203754
dbSNP (classic)rs786203754
ClinGenrs786203754
ebirs786203754
HLIrs786203754
Exacrs786203754
Gnomadrs786203754
Varsomers786203754
LitVarrs786203754
Maprs786203754
PheGenIrs786203754
Biobankrs786203754
1000 genomesrs786203754
hgdprs786203754
ensemblrs786203754
geneviewrs786203754
scholarrs786203754
googlers786203754
pharmgkbrs786203754
gwascentralrs786203754
openSNPrs786203754
23andMers786203754
SNPshotrs786203754
SNPdbers786203754
MSV3drs786203754
GWAS Ctlgrs786203754
Max Magnitude6
ClinVar
Risk rs786203754(A;A) rs786203754(G;G)
Alt rs786203754(A;A) rs786203754(G;G)
Reference Rs786203754(T;T)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41219672A>C; NC_000017.10:g.41219672A>T
CLNSRC
CLNACC RCV000167197.1, RCV000241174.1, RCV000257250.2,