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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
ebirs9370096
HLIrs9370096
Exacrs9370096
Varsomers9370096
Maprs9370096
PheGenIrs9370096
hapmaprs9370096
1000 genomesrs9370096
hgdprs9370096
ensemblrs9370096
gopubmedrs9370096
geneviewrs9370096
scholarrs9370096
googlers9370096
pharmgkbrs9370096
gwascentralrs9370096
openSNPrs9370096
23andMers9370096
23andMe allrs9370096
SNP Nexus

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
Venter snp
Source plos
Gene PKHD1
allele A
frequency 0.467
sift AFFECT FUNCTION
HuRef 1103652867222
Disease Association Defects in PKHD1 are the cause of all typical forms of autosomal recessive polycystic kidney disease (ARPKD) (MIM:263200). ARPKD is a hereditary and severe form of polycystic kidney disease affecting the kidneys and the hepatic biliary tract. The clinical spectrum is widely variable, with most cases presenting during infancy. The fetal phenotypic features classically include enlarged and echogenic kidneys, as well as oligohydramnios secondary to a poor urine output. Up to 50% of the affected neonates die shortly after birth, as a result of severe pulmonary hypoplasia and secondary respiratory insufficiency. In the subset that survives the perinatal period, morbidity and mortality are mainly related to severe systemic hypertension, renal insufficiency, and portal hypertension due to portal-tract fibrosis.



GET Evidence
PKHD1-R760C
aa_change Arg760Cys
aa_change_short R760C
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.386317
summary



ClinVar
Risk rs9370096(A;A)
Alt rs9370096(A;A)
Reference rs9370096(G;G)
Significance Non-pathogenic
Disease not specified
Variation info
Gene PKHD1
CLNDBN not specified
Reversed 0
HGVS NC_000006.11:g.51914956G>A
CLNSRC ClinVar Emory University
CLNACC RCV000082536.4,