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rs9370096

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs9370096(A;A)
Make rs9370096(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position52050158
GenePKHD1
is asnp
is mentioned by
dbSNPrs9370096
dbSNP (classic)rs9370096
ClinGenrs9370096
ebirs9370096
HLIrs9370096
Exacrs9370096
Gnomadrs9370096
Varsomers9370096
LitVarrs9370096
Maprs9370096
PheGenIrs9370096
Biobankrs9370096
1000 genomesrs9370096
hgdprs9370096
ensemblrs9370096
geneviewrs9370096
scholarrs9370096
googlers9370096
pharmgkbrs9370096
gwascentralrs9370096
openSNPrs9370096
23andMers9370096
SNPshotrs9370096
SNPdbers9370096
MSV3drs9370096
GWAS Ctlgrs9370096
GMAF0.41
Max Magnitude0

Although a SNP in the PKHD1 gene, this variant is considered benign in ClinVar and not causative for any disorder.

? (A;A) (A;G) (G;G) 28




ClinVar
Risk rs9370096(A;A)
Alt rs9370096(A;A)
Reference Rs9370096(G;G)
Significance Non-pathogenic
Disease not specified Autosomal recessive polycystic kidney disease
Variation info
Gene PKHD1
CLNDBN not specified Autosomal recessive polycystic kidney disease
Reversed 0
HGVS NC_000006.11:g.51914956G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000082536.6, RCV000278857.1,