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rs201881567

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common/normal
(A;C) 3 Carrier of an autosomal recessive polycystic kidney disease mutation
Make rs201881567(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome6
Position51883179
GenePKHD1
is asnp
is mentioned by
dbSNPrs201881567
dbSNP (classic)rs201881567
ClinGenrs201881567
ebirs201881567
HLIrs201881567
Exacrs201881567
Gnomadrs201881567
Varsomers201881567
LitVarrs201881567
Maprs201881567
PheGenIrs201881567
Biobankrs201881567
1000 genomesrs201881567
hgdprs201881567
ensemblrs201881567
geneviewrs201881567
scholarrs201881567
googlers201881567
pharmgkbrs201881567
gwascentralrs201881567
openSNPrs201881567
23andMers201881567
SNPshotrs201881567
SNPdbers201881567
MSV3drs201881567
GWAS Ctlgrs201881567
Max Magnitude3
ClinVar
Risk rs201881567(C;C) rs201881567(G;G)
Alt rs201881567(C;C) rs201881567(G;G)
Reference Rs201881567(A;A)
Significance Unknown
Disease Autosomal recessive polycystic kidney disease
Variation info
Gene PKHD1
CLNDBN Autosomal recessive polycystic kidney disease
Reversed 0
HGVS NC_000006.11:g.51747977A>C
CLNSRC
CLNACC RCV000457585.1,