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rs2229571

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs2229571(C;C)
Make rs2229571(C;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position214780740
GeneBARD1
is asnp
is mentioned by
dbSNPrs2229571
ebirs2229571
HLIrs2229571
Exacrs2229571
Varsomers2229571
Maprs2229571
PheGenIrs2229571
hapmaprs2229571
1000 genomesrs2229571
hgdprs2229571
ensemblrs2229571
gopubmedrs2229571
geneviewrs2229571
scholarrs2229571
googlers2229571
pharmgkbrs2229571
gwascentralrs2229571
openSNPrs2229571
23andMers2229571
23andMe allrs2229571
SNP Nexus

SNPshotrs2229571
SNPdbers2229571
MSV3drs2229571
GWAS Ctlgrs2229571
GMAF0.4876
Max Magnitude0
? (C;C) (C;G) (G;G) 28


Venter snp
Source plos
Gene BARD1
allele G
frequency 0.417
sift AFFECT FUNCTION
HuRef 1103658361181
Disease Association Defects in BARD1 gene are found in primary breast, ovarian and uterine cancers.



[PMID 19412175OA-icon.png] Common variations in BARD1 influence susceptibility to high-risk neuroblastoma.


[PMID 19482343] Polymorphisms in HPV E6/E7 protein interacted genes and risk of cervical cancer in Chinese women: a case-control analysis.


GET Evidence
BARD1-R378S
aa_change Arg378Ser
aa_change_short R378S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.527421
summary



ClinVar
Risk rs2229571(C;C)
Alt rs2229571(C;C)
Reference rs2229571(G;G)
Significance Non-pathogenic
Disease Hereditary cancer-predisposing syndrome
Variation info
Gene BARD1
CLNDBN Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000002.11:g.215645464C>G
CLNSRC Inc.
CLNACC RCV000132162.3,