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rs727504096

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of an autosomal recessive polycystic kidney disease mutation
Make rs727504096(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome6
Position52079920
GenePKHD1
is asnp
is mentioned by
dbSNPrs727504096
ebirs727504096
HLIrs727504096
Exacrs727504096
Varsomers727504096
Maprs727504096
PheGenIrs727504096
hapmaprs727504096
1000 genomesrs727504096
hgdprs727504096
ensemblrs727504096
gopubmedrs727504096
geneviewrs727504096
scholarrs727504096
googlers727504096
pharmgkbrs727504096
gwascentralrs727504096
openSNPrs727504096
23andMers727504096
23andMe allrs727504096
SNP Nexus

SNPshotrs727504096
SNPdbers727504096
MSV3drs727504096
GWAS Ctlgrs727504096
Max Magnitude3
ClinVar
Risk rs727504096(T;T)
Alt rs727504096(T;T)
Reference rs727504096(C;C)
Significance Pathogenic
Disease not provided Polycystic kidney disease
Variation info
Gene PKHD1
CLNDBN not provided Polycystic kidney disease, infantile type
Reversed 1
HGVS NC_000006.11:g.51944718G>A
CLNSRC HGMD
CLNACC RCV000153728.2, RCV000179011.1,