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rs797045175

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;TGTG) 6 BRCA1 variant considered pathogenic for breast cancer
(TGTG;TGTG) 0 common in clinvar


Make rs797045175(-;-)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position43095919
GeneBRCA1
is asnp
is mentioned by
dbSNPrs797045175
ClinGenrs797045175
ebirs797045175
HLIrs797045175
Exacrs797045175
Varsomers797045175
Maprs797045175
PheGenIrs797045175
hapmaprs797045175
1000 genomesrs797045175
hgdprs797045175
ensemblrs797045175
gopubmedrs797045175
geneviewrs797045175
scholarrs797045175
googlers797045175
pharmgkbrs797045175
gwascentralrs797045175
openSNPrs797045175
23andMers797045175
23andMe allrs797045175
SNP Nexus

SNPshotrs797045175
SNPdbers797045175
MSV3drs797045175
GWAS Ctlgrs797045175
Max Magnitude6
ClinVar
Risk
Alt
Reference Rs797045175(TGTG;TGTG)
Significance Pathogenic
Disease Fanconi anemia Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Fanconi anemia, complementation group A Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41247936_41247939delCACA
CLNSRC
CLNACC RCV000191042.1, RCV000258289.1,