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rs777999875

From SNPedia

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


Make rs777999875(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome6
Position52017497
GenePKHD1
is asnp
is mentioned by
dbSNPrs777999875
dbSNP (old)rs777999875
ClinGenrs777999875
ebirs777999875
HLIrs777999875
Exacrs777999875
Gnomadrs777999875
Varsomers777999875
Maprs777999875
PheGenIrs777999875
Biobankrs777999875
1000 genomesrs777999875
hgdprs777999875
ensemblrs777999875
gopubmedrs777999875
geneviewrs777999875
scholarrs777999875
googlers777999875
pharmgkbrs777999875
gwascentralrs777999875
openSNPrs777999875
23andMers777999875
23andMe allrs777999875
SNP Nexus

SNPshotrs777999875
SNPdbers777999875
MSV3drs777999875
GWAS Ctlgrs777999875
Max Magnitude3
ClinVar
Risk rs777999875(C;C)
Alt rs777999875(C;C)
Reference Rs777999875(T;T)
Significance Probable-Pathogenic
Disease Autosomal recessive polycystic kidney disease
Variation info
Gene PKHD1
CLNDBN Autosomal recessive polycystic kidney disease
Reversed 0
HGVS NC_000006.11:g.51882295T>C
CLNSRC
CLNACC RCV000411938.1,