Have questions? Visit https://www.reddit.com/r/SNPedia

rs45444999

From SNPedia

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


Make rs45444999(A;A)
ReferenceGRCh38 38.1/142
Chromosome17
Position43063882
GeneBRCA1
is asnp
is mentioned by
dbSNPrs45444999
dbSNP (classic)rs45444999
ClinGenrs45444999
ebirs45444999
HLIrs45444999
Exacrs45444999
Gnomadrs45444999
Varsomers45444999
LitVarrs45444999
Maprs45444999
PheGenIrs45444999
Biobankrs45444999
1000 genomesrs45444999
hgdprs45444999
ensemblrs45444999
geneviewrs45444999
scholarrs45444999
googlers45444999
pharmgkbrs45444999
gwascentralrs45444999
openSNPrs45444999
23andMers45444999
SNPshotrs45444999
SNPdbers45444999
MSV3drs45444999
GWAS Ctlgrs45444999
Max Magnitude6
ClinVar
Risk rs45444999(A;A) rs45444999(T;T)
Alt rs45444999(A;A) rs45444999(T;T)
Reference Rs45444999(G;G)
Significance Untested
Disease not specified Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN not specified Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41215899C>A; NC_000017.10:g.41215899C>T
CLNSRC ClinVar
CLNACC RCV000479434.1, RCV000048812.2, RCV000112507.1,