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rs397508979

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs397508979(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092974
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397508979
dbSNP (classic)rs397508979
ClinGenrs397508979
ebirs397508979
HLIrs397508979
Exacrs397508979
Gnomadrs397508979
Varsomers397508979
LitVarrs397508979
Maprs397508979
PheGenIrs397508979
Biobankrs397508979
1000 genomesrs397508979
hgdprs397508979
ensemblrs397508979
geneviewrs397508979
scholarrs397508979
googlers397508979
pharmgkbrs397508979
gwascentralrs397508979
openSNPrs397508979
23andMers397508979
SNPshotrs397508979
SNPdbers397508979
MSV3drs397508979
GWAS Ctlgrs397508979
Max Magnitude6

aka c.2556_2557insTTCACTTTTC

ClinVar
Risk rs397508979(TTCACTTTTC;TTCACTTTTC) rs397508979(T;T)
Alt rs397508979(TTCACTTTTC;TTCACTTTTC) rs397508979(T;T)
Reference Rs397508979(-;-)
Significance Pathogenic
Disease Neoplasm of breast Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Neoplasm of breast Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41244991_41244992insGAAAAGTGAA; NC_000017.10:g.41244992dupA
CLNSRC ClinVar
CLNACC RCV000240805.1, RCV000047875.2,