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rs730881701

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs730881701(C;T)
Make rs730881701(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome22
Position28725278
GeneCHEK2
is asnp
is mentioned by
dbSNPrs730881701
ebirs730881701
HLIrs730881701
Exacrs730881701
Varsomers730881701
Maprs730881701
PheGenIrs730881701
hapmaprs730881701
1000 genomesrs730881701
hgdprs730881701
ensemblrs730881701
gopubmedrs730881701
geneviewrs730881701
scholarrs730881701
googlers730881701
pharmgkbrs730881701
gwascentralrs730881701
openSNPrs730881701
23andMers730881701
23andMe allrs730881701
SNP Nexus

SNPshotrs730881701
SNPdbers730881701
MSV3drs730881701
GWAS Ctlgrs730881701
Max Magnitude0
ClinVar
Risk rs730881701(T;T)
Alt rs730881701(T;T)
Reference rs730881701(C;C)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Tumor susceptibility linked to germline BAP1 mutations Familial cancer of breast
Variation info
Gene CHEK2
CLNDBN Hereditary cancer-predisposing syndrome Tumor susceptibility linked to germline BAP1 mutations Familial cancer of breast
Reversed 1
HGVS NC_000022.10:g.29121266G>A
CLNSRC
CLNACC RCV000160452.1, RCV000220810.1, RCV000229303.1,