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rs397508856

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AAGTA;AAGTA) 0 common in clinvar
Make rs397508856(AAGTA;T)
Make rs397508856(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43115723
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397508856
dbSNP (classic)rs397508856
ClinGenrs397508856
ebirs397508856
HLIrs397508856
Exacrs397508856
Gnomadrs397508856
Varsomers397508856
LitVarrs397508856
Maprs397508856
PheGenIrs397508856
Biobankrs397508856
1000 genomesrs397508856
hgdprs397508856
ensemblrs397508856
geneviewrs397508856
scholarrs397508856
googlers397508856
pharmgkbrs397508856
gwascentralrs397508856
openSNPrs397508856
23andMers397508856
SNPshotrs397508856
SNPdbers397508856
MSV3drs397508856
GWAS Ctlgrs397508856
Max Magnitude0
ClinVar
Risk rs397508856(T;T)
Alt rs397508856(T;T)
Reference Rs397508856(AAGTA;AAGTA)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome
Reversed 1
HGVS NC_000017.10:g.41267740_41267744delTACTTinsA
CLNSRC ClinVar
CLNACC RCV000047425.2, RCV000258364.1, RCV000459560.1,