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rs750413473

From SNPedia

Orientationplus
Geno Mag Summary
(CA;CA) 0 common in clinvar
Make rs750413473(-;-)
Make rs750413473(-;CA)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position214728709
GeneBARD1
is asnp
is mentioned by
dbSNPrs750413473
ebirs750413473
HLIrs750413473
Exacrs750413473
Varsomers750413473
Maprs750413473
PheGenIrs750413473
hapmaprs750413473
1000 genomesrs750413473
hgdprs750413473
ensemblrs750413473
gopubmedrs750413473
geneviewrs750413473
scholarrs750413473
googlers750413473
pharmgkbrs750413473
gwascentralrs750413473
openSNPrs750413473
23andMers750413473
23andMe allrs750413473
SNP Nexus

SNPshotrs750413473
SNPdbers750413473
MSV3drs750413473
GWAS Ctlgrs750413473
Max Magnitude0
ClinVar
Risk rs750413473(;)
Alt rs750413473(;)
Reference rs750413473(CA;CA)
Significance Probable-Pathogenic
Disease Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BARD1
CLNDBN Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000002.11:g.215593433_215593434delCA
CLNSRC
CLNACC RCV000213123.1,