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rs483353100

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs483353100(A;G)
Make rs483353100(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position43063362
GeneBRCA1
is asnp
is mentioned by
dbSNPrs483353100
ebirs483353100
HLIrs483353100
Exacrs483353100
Varsomers483353100
Maprs483353100
PheGenIrs483353100
hapmaprs483353100
1000 genomesrs483353100
hgdprs483353100
ensemblrs483353100
gopubmedrs483353100
geneviewrs483353100
scholarrs483353100
googlers483353100
pharmgkbrs483353100
gwascentralrs483353100
openSNPrs483353100
23andMers483353100
23andMe allrs483353100
SNP Nexus

SNPshotrs483353100
SNPdbers483353100
MSV3drs483353100
GWAS Ctlgrs483353100
Max Magnitude0
ClinVar
Risk rs483353100(G;G)
Alt rs483353100(G;G)
Reference rs483353100(A;A)
Significance Probable-Pathogenic
Disease Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000017.10:g.41215379A>G
CLNSRC
CLNACC RCV000112543.1, RCV000214128.1,