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rs146649803

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs146649803(A;A)
Make rs146649803(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position51747897
GenePKHD1
is asnp
is mentioned by
dbSNPrs146649803
dbSNP (old)rs146649803
ClinGenrs146649803
ebirs146649803
HLIrs146649803
Exacrs146649803
Gnomadrs146649803
Varsomers146649803
Maprs146649803
PheGenIrs146649803
Biobankrs146649803
1000 genomesrs146649803
hgdprs146649803
ensemblrs146649803
gopubmedrs146649803
geneviewrs146649803
scholarrs146649803
googlers146649803
pharmgkbrs146649803
gwascentralrs146649803
openSNPrs146649803
23andMers146649803
23andMe allrs146649803
SNP Nexus

SNPshotrs146649803
SNPdbers146649803
MSV3drs146649803
GWAS Ctlgrs146649803
Max Magnitude0
ClinVar
Risk rs146649803(A;A) rs146649803(T;T)
Alt rs146649803(A;A) rs146649803(T;T)
Reference Rs146649803(C;C)
Significance Probable-Pathogenic
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.51612695C>A
CLNSRC HGMD
CLNACC RCV000153706.3, RCV000200664.1,