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rs864622132

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs864622132(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position43071204
GeneBRCA1
is asnp
is mentioned by
dbSNPrs864622132
dbSNP (classic)rs864622132
ClinGenrs864622132
ebirs864622132
HLIrs864622132
Exacrs864622132
Gnomadrs864622132
Varsomers864622132
LitVarrs864622132
Maprs864622132
PheGenIrs864622132
Biobankrs864622132
1000 genomesrs864622132
hgdprs864622132
ensemblrs864622132
geneviewrs864622132
scholarrs864622132
googlers864622132
pharmgkbrs864622132
gwascentralrs864622132
openSNPrs864622132
23andMers864622132
SNPshotrs864622132
SNPdbers864622132
MSV3drs864622132
GWAS Ctlgrs864622132
Max Magnitude6

aka c.4709dupT

ClinVar
Risk rs864622132(T;T)
Alt rs864622132(T;T)
Reference Rs864622132(-;-)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41223222dupA
CLNSRC
CLNACC RCV000203737.1, RCV000241489.1,