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rs587781648

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;TCTAGGACTTGCCCCTTTCGTCTATTT) 6 BRCA2 variant considered pathogenic for breast cancer
(TTCTAGGACTTGCCCCTTTCGTCTATT;TTCTAGGACTTGCCCCTTTCGTCTATT) 0 common in clinvar
Make rs587781648(-;-)
Make rs587781648(TCTAGGACTTGCCCCTTTCGTCTATTT;TCTAGGACTTGCCCCTTTCGTCTATTT)
ReferenceGRCh38.p2 38.2/144
Chromosome13
Position32394684
GeneBRCA2
is asnp
is mentioned by
dbSNPrs587781648
dbSNP (classic)rs587781648
ClinGenrs587781648
ebirs587781648
HLIrs587781648
Exacrs587781648
Gnomadrs587781648
Varsomers587781648
LitVarrs587781648
Maprs587781648
PheGenIrs587781648
Biobankrs587781648
1000 genomesrs587781648
hgdprs587781648
ensemblrs587781648
geneviewrs587781648
scholarrs587781648
googlers587781648
pharmgkbrs587781648
gwascentralrs587781648
openSNPrs587781648
23andMers587781648
SNPshotrs587781648
SNPdbers587781648
MSV3drs587781648
GWAS Ctlgrs587781648
Max Magnitude6

aka c.9257-5_9278del

ClinVar
Risk rs587781648(-;-)
Alt rs587781648(-;-)
Reference Rs587781648(TTCTAGGACTTGCCCCTTTCGTCTATT;TTCTAGGACTTGCCCCTTTCGTCTATT)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32968821_32968847del27
CLNSRC
CLNACC RCV000129779.2,