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rs1048108

From SNPedia

Orientationminus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1048108(C;T)
Make rs1048108(T;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position214809500
GeneAC072062.1, BARD1
is asnp
is mentioned by
dbSNPrs1048108
ebirs1048108
HLIrs1048108
Exacrs1048108
Varsomers1048108
Maprs1048108
PheGenIrs1048108
hapmaprs1048108
1000 genomesrs1048108
hgdprs1048108
ensemblrs1048108
gopubmedrs1048108
geneviewrs1048108
scholarrs1048108
googlers1048108
pharmgkbrs1048108
gwascentralrs1048108
openSNPrs1048108
23andMers1048108
23andMe allrs1048108
SNP Nexus

SNPshotrs1048108
SNPdbers1048108
MSV3drs1048108
GWAS Ctlgrs1048108
GMAF0.3471
Max Magnitude0
? (C;C) (C;T) (T;T) 28


Venter snp
Source plos
Gene BARD1
allele A
frequency 0.375
sift TOLERATED
HuRef 1103658361239
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-P24S
aa_change Pro24Ser
aa_change_short P24S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.298379
summary



ClinVar
Risk rs1048108(T;T)
Alt rs1048108(T;T)
Reference rs1048108(C;C)
Significance Non-pathogenic
Disease Hereditary cancer-predisposing syndrome
Variation info
Gene LOC101928103 BARD1
CLNDBN Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000002.11:g.215674224G>A
CLNSRC Inc.
CLNACC RCV000162363.2,