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rs781368899

From SNPedia

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


Make rs781368899(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome6
Position51659907
GeneLOC105375087, PKHD1
is asnp
is mentioned by
dbSNPrs781368899
ebirs781368899
HLIrs781368899
Exacrs781368899
Varsomers781368899
Maprs781368899
PheGenIrs781368899
hapmaprs781368899
1000 genomesrs781368899
hgdprs781368899
ensemblrs781368899
gopubmedrs781368899
geneviewrs781368899
scholarrs781368899
googlers781368899
pharmgkbrs781368899
gwascentralrs781368899
openSNPrs781368899
23andMers781368899
23andMe allrs781368899
SNP Nexus

SNPshotrs781368899
SNPdbers781368899
MSV3drs781368899
GWAS Ctlgrs781368899
Max Magnitude3
ClinVar
Risk rs781368899(A;A)
Alt rs781368899(A;A)
Reference rs781368899(G;G)
Significance Pathogenic
Disease Polycystic kidney disease
Variation info
Gene PKHD1
CLNDBN Polycystic kidney disease, infantile type
Reversed 0
HGVS NC_000006.11:g.51524705G>A
CLNSRC
CLNACC RCV000179595.1,