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rs9296669

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs9296669(A;A)
Make rs9296669(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position52026025
GenePKHD1
is asnp
is mentioned by
dbSNPrs9296669
ebirs9296669
HLIrs9296669
Exacrs9296669
Varsomers9296669
Maprs9296669
PheGenIrs9296669
hapmaprs9296669
1000 genomesrs9296669
hgdprs9296669
ensemblrs9296669
gopubmedrs9296669
geneviewrs9296669
scholarrs9296669
googlers9296669
pharmgkbrs9296669
gwascentralrs9296669
openSNPrs9296669
23andMers9296669
23andMe allrs9296669
SNP Nexus

SNPshotrs9296669
SNPdbers9296669
MSV3drs9296669
GWAS Ctlgrs9296669
GMAF0.3972
Max Magnitude0
? (A;A) (A;G) (G;G) 28


GET Evidence
PKHD1-A1262V
aa_change Ala1262Val
aa_change_short A1262V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.38892
summary



ClinVar
Risk rs9296669(A;A)
Alt rs9296669(A;A)
Reference rs9296669(G;G)
Significance Non-pathogenic
Disease not specified
Variation info
Gene PKHD1
CLNDBN not specified
Reversed 0
HGVS NC_000006.11:g.51890823G>A
CLNSRC ClinVar Emory University
CLNACC RCV000082549.4,