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rs777183511

From SNPedia

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


Make rs777183511(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome6
Position52050167
GenePKHD1
is asnp
is mentioned by
dbSNPrs777183511
ClinGenrs777183511
ebirs777183511
HLIrs777183511
Exacrs777183511
Varsomers777183511
Maprs777183511
PheGenIrs777183511
hapmaprs777183511
1000 genomesrs777183511
hgdprs777183511
ensemblrs777183511
gopubmedrs777183511
geneviewrs777183511
scholarrs777183511
googlers777183511
pharmgkbrs777183511
gwascentralrs777183511
openSNPrs777183511
23andMers777183511
23andMe allrs777183511
SNP Nexus

SNPshotrs777183511
SNPdbers777183511
MSV3drs777183511
GWAS Ctlgrs777183511
Max Magnitude3
ClinVar
Risk rs777183511(C;C) rs777183511(G;G)
Alt rs777183511(C;C) rs777183511(G;G)
Reference Rs777183511(T;T)
Significance Unknown
Disease Autosomal recessive polycystic kidney disease not specified
Variation info
Gene PKHD1
CLNDBN Autosomal recessive polycystic kidney disease not specified
Reversed 0
HGVS NC_000006.11:g.51914965T>C; NC_000006.11:g.51914965T>G
CLNSRC
CLNACC RCV000472049.1, RCV000288236.1, RCV000317551.1,