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rs200391019

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 3 Carrier of an autosomal recessive polycystic kidney disease mutation
(G;G) 0 common/normal


Make rs200391019(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome6
Position52024940
GenePKHD1
is asnp
is mentioned by
dbSNPrs200391019
ebirs200391019
HLIrs200391019
Exacrs200391019
Varsomers200391019
Maprs200391019
PheGenIrs200391019
hapmaprs200391019
1000 genomesrs200391019
hgdprs200391019
ensemblrs200391019
gopubmedrs200391019
geneviewrs200391019
scholarrs200391019
googlers200391019
pharmgkbrs200391019
gwascentralrs200391019
openSNPrs200391019
23andMers200391019
23andMe allrs200391019
SNP Nexus

SNPshotrs200391019
SNPdbers200391019
MSV3drs200391019
GWAS Ctlgrs200391019
Max Magnitude3
ClinVar
Risk rs200391019(A;A)
Alt rs200391019(A;A)
Reference rs200391019(G;G)
Significance Other
Disease Polycystic kidney disease
Variation info
Gene PKHD1
CLNDBN Polycystic kidney disease, infantile type
Reversed 0
HGVS NC_000006.11:g.51889738G>A
CLNSRC
CLNACC RCV000168407.3,