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rs368263958

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 7 Autosomal recessive polycystic kidney disease
(A;G) 3 Carrier of an autosomal recessive polycystic kidney disease mutation
(G;G) 0 common in clinvar
(G;T) 3 Carrier of an autosomal recessive polycystic kidney disease mutation
Make rs368263958(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome6
Position51909466
GenePKHD1
is asnp
is mentioned by
dbSNPrs368263958
ebirs368263958
HLIrs368263958
Exacrs368263958
Varsomers368263958
Maprs368263958
PheGenIrs368263958
hapmaprs368263958
1000 genomesrs368263958
hgdprs368263958
ensemblrs368263958
gopubmedrs368263958
geneviewrs368263958
scholarrs368263958
googlers368263958
pharmgkbrs368263958
gwascentralrs368263958
openSNPrs368263958
23andMers368263958
23andMe allrs368263958
SNP Nexus

SNPshotrs368263958
SNPdbers368263958
MSV3drs368263958
GWAS Ctlgrs368263958
Max Magnitude7
ClinVar
Risk rs368263958(T;T)
Alt rs368263958(T;T)
Reference rs368263958(G;G)
Significance Pathogenic
Disease not provided Polycystic kidney disease
Variation info
Gene PKHD1
CLNDBN not provided Polycystic kidney disease, infantile type
Reversed 0
HGVS NC_000006.11:g.51774264G>A
CLNSRC
CLNACC RCV000153713.2, RCV000178448.1,