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rs2435322

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Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
(G;T) 0 considered benign
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome6
Position52010452
GenePKHD1
is asnp
is mentioned by
dbSNPrs2435322
ebirs2435322
HLIrs2435322
Exacrs2435322
Varsomers2435322
Maprs2435322
PheGenIrs2435322
hapmaprs2435322
1000 genomesrs2435322
hgdprs2435322
ensemblrs2435322
gopubmedrs2435322
geneviewrs2435322
scholarrs2435322
googlers2435322
pharmgkbrs2435322
gwascentralrs2435322
openSNPrs2435322
23andMers2435322
23andMe allrs2435322
SNP Nexus

SNPshotrs2435322
SNPdbers2435322
MSV3drs2435322
GWAS Ctlgrs2435322
GMAF0.03214
Max Magnitude0

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

? (G;G) (G;T) (T;T) 28
Venter snp
Source plos
Gene PKHD1
allele C
frequency
sift TOLERATED
HuRef 1103652867160
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-L1870V
aa_change Leu1870Val
aa_change_short L1870V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.952408
summary



ClinVar
Risk rs2435322(G;G)
Alt rs2435322(G;G)
Reference rs2435322(T;T)
Significance Non-pathogenic
Disease not specified
Variation info
Gene PKHD1
CLNDBN not specified
Reversed 1
HGVS NC_000006.11:g.51875250A>C
CLNSRC ClinVar Emory University
CLNACC RCV000082560.4,