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rs149798764

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common/normal
(A;G) 3 Carrier of an autosomal recessive polycystic kidney disease mutation
(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome6
Position51744505
GenePKHD1
is asnp
is mentioned by
dbSNPrs149798764
dbSNP (classic)rs149798764
ClinGenrs149798764
ebirs149798764
HLIrs149798764
Exacrs149798764
Gnomadrs149798764
Varsomers149798764
LitVarrs149798764
Maprs149798764
PheGenIrs149798764
Biobankrs149798764
1000 genomesrs149798764
hgdprs149798764
ensemblrs149798764
geneviewrs149798764
scholarrs149798764
googlers149798764
pharmgkbrs149798764
gwascentralrs149798764
openSNPrs149798764
23andMers149798764
SNPshotrs149798764
SNPdbers149798764
MSV3drs149798764
GWAS Ctlgrs149798764
Max Magnitude3
ClinVar
Risk Rs149798764(G;G)
Alt Rs149798764(G;G)
Reference Rs149798764(A;A)
Significance Unknown
Disease not specified Autosomal recessive polycystic kidney disease
Variation info
Gene PKHD1
CLNDBN not specified Autosomal recessive polycystic kidney disease
Reversed 0
HGVS NC_000006.11:g.51609303A>G
CLNSRC UniProtKB (protein)
CLNACC RCV000179584.2, RCV000195797.1,