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rs181208607

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs181208607(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome6
Position51847966
GenePKHD1
is asnp
is mentioned by
dbSNPrs181208607
ebirs181208607
HLIrs181208607
Exacrs181208607
Varsomers181208607
Maprs181208607
PheGenIrs181208607
hapmaprs181208607
1000 genomesrs181208607
hgdprs181208607
ensemblrs181208607
gopubmedrs181208607
geneviewrs181208607
scholarrs181208607
googlers181208607
pharmgkbrs181208607
gwascentralrs181208607
openSNPrs181208607
23andMers181208607
23andMe allrs181208607
SNP Nexus

SNPshotrs181208607
SNPdbers181208607
MSV3drs181208607
GWAS Ctlgrs181208607
Max Magnitude0
ClinVar
Risk rs181208607(T;T)
Alt rs181208607(T;T)
Reference rs181208607(G;G)
Significance Probable-Pathogenic
Disease Polycystic kidney disease
Variation info
Gene PKHD1
CLNDBN Polycystic kidney disease, infantile type
Reversed 0
HGVS NC_000006.11:g.51712764G>T
CLNSRC
CLNACC RCV000169564.1,