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rs4252596

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs4252596(A;A)
Make rs4252596(A;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position39699581
GeneERBB2
is asnp
is mentioned by
dbSNPrs4252596
ebirs4252596
HLIrs4252596
Exacrs4252596
Varsomers4252596
Maprs4252596
PheGenIrs4252596
hapmaprs4252596
1000 genomesrs4252596
hgdprs4252596
ensemblrs4252596
gopubmedrs4252596
geneviewrs4252596
scholarrs4252596
googlers4252596
pharmgkbrs4252596
gwascentralrs4252596
openSNPrs4252596
23andMers4252596
23andMe allrs4252596
SNP Nexus

SNPshotrs4252596
SNPdbers4252596
MSV3drs4252596
GWAS Ctlgrs4252596
GMAF0.05096
Max Magnitude0
? (A;A) (A;C) (C;C) 28
[PMID 17132159OA-icon.png] Comprehensive analysis of the ATM, CHEK2 and ERBB2 genes in relation to breast tumour characteristics and survival: a population-based case-control and follow-up study.


GET Evidence
rs4252596
aa_change
aa_change_short
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.101562
summary



ClinVar
Risk rs4252596(A;A)
Alt rs4252596(A;A)
Reference rs4252596(C;C)
Significance Untested
Disease not specified
Variation info
Gene ERBB2
CLNDBN not specified
Reversed 0
HGVS NC_000017.10:g.37855834C>A
CLNSRC ClinVar
CLNACC RCV000122379.1,