Have questions? Visit https://www.reddit.com/r/SNPedia

rs199531851

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 6 Polycystic kidney disease
(A;G) 3 carrier of an autosomal recessive polycystic kidney disease mutation
(G;G) 0 common/normal
ReferenceGRCh38.p2 38.2/144
Chromosome6
Position52046182
GenePKHD1
is asnp
is mentioned by
dbSNPrs199531851
dbSNP (old)rs199531851
ClinGenrs199531851
ebirs199531851
HLIrs199531851
Exacrs199531851
Gnomadrs199531851
Varsomers199531851
Maprs199531851
PheGenIrs199531851
Biobankrs199531851
1000 genomesrs199531851
hgdprs199531851
ensemblrs199531851
gopubmedrs199531851
geneviewrs199531851
scholarrs199531851
googlers199531851
pharmgkbrs199531851
gwascentralrs199531851
openSNPrs199531851
23andMers199531851
23andMe allrs199531851
SNP Nexus

SNPshotrs199531851
SNPdbers199531851
MSV3drs199531851
GWAS Ctlgrs199531851
Max Magnitude6
rs199531851, also known as c.2414C>T, p.Pro805Leu or P805L, is a SNP in the PKHD1 gene on chromosome 6.

The risk allele, rs199531851(A), is considered causative for autosomal recessive Polycystic kidney disease.

This SNP is referred to as i5000044 and i6016699 by 23andMe.

ClinVar
Risk Rs199531851(A;A)
Alt Rs199531851(A;A)
Reference Rs199531851(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene PKHD1
CLNDBN not provided
Reversed 0
HGVS NC_000006.11:g.51910980G>A
CLNSRC
CLNACC RCV000432815.1,