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rs876659196

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AGT;AGT) 0 common in clinvar
(AGT;C) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs876659196(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position43093761
GeneBRCA1
is asnp
is mentioned by
dbSNPrs876659196
dbSNP (classic)rs876659196
ClinGenrs876659196
ebirs876659196
HLIrs876659196
Exacrs876659196
Gnomadrs876659196
Varsomers876659196
LitVarrs876659196
Maprs876659196
PheGenIrs876659196
Biobankrs876659196
1000 genomesrs876659196
hgdprs876659196
ensemblrs876659196
geneviewrs876659196
scholarrs876659196
googlers876659196
pharmgkbrs876659196
gwascentralrs876659196
openSNPrs876659196
23andMers876659196
SNPshotrs876659196
SNPdbers876659196
MSV3drs876659196
GWAS Ctlgrs876659196
Max Magnitude6

aka c.787+981_787+983delinsC

ClinVar
Risk rs876659196(C;C)
Alt rs876659196(C;C)
Reference Rs876659196(AGT;AGT)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41245778_41245780delACTinsG
CLNSRC
CLNACC RCV000219321.1,