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rs730881473

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730881473(G;T)
Make rs730881473(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position43093817
GeneBRCA1
is asnp
is mentioned by
dbSNPrs730881473
ebirs730881473
HLIrs730881473
Exacrs730881473
Varsomers730881473
Maprs730881473
PheGenIrs730881473
hapmaprs730881473
1000 genomesrs730881473
hgdprs730881473
ensemblrs730881473
gopubmedrs730881473
geneviewrs730881473
scholarrs730881473
googlers730881473
pharmgkbrs730881473
gwascentralrs730881473
openSNPrs730881473
23andMers730881473
23andMe allrs730881473
SNP Nexus

SNPshotrs730881473
SNPdbers730881473
MSV3drs730881473
GWAS Ctlgrs730881473
Max Magnitude0
ClinVar
Risk rs730881473(C,T;C,T)
Alt rs730881473(C,T;C,T)
Reference rs730881473(G;G)
Significance Pathogenic
Disease not provided Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA1
CLNDBN not provided Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000017.10:g.41245834C>A; NC_000017.10:g.41245834C>G
CLNSRC
CLNACC RCV000159957.3, RCV000218698.1, RCV000217032.1,