Have questions? Visit https://www.reddit.com/r/SNPedia

rs786204688

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common/normal
(C;T) 3 Carrier of an autosomal recessive polycystic kidney disease mutation
Make rs786204688(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position51748297
GenePKHD1
is asnp
is mentioned by
dbSNPrs786204688
dbSNP (classic)rs786204688
ClinGenrs786204688
ebirs786204688
HLIrs786204688
Exacrs786204688
Gnomadrs786204688
Varsomers786204688
LitVarrs786204688
Maprs786204688
PheGenIrs786204688
Biobankrs786204688
1000 genomesrs786204688
hgdprs786204688
ensemblrs786204688
geneviewrs786204688
scholarrs786204688
googlers786204688
pharmgkbrs786204688
gwascentralrs786204688
openSNPrs786204688
23andMers786204688
SNPshotrs786204688
SNPdbers786204688
MSV3drs786204688
GWAS Ctlgrs786204688
Max Magnitude3
ClinVar
Risk rs786204688(T;T)
Alt rs786204688(T;T)
Reference Rs786204688(C;C)
Significance Other
Disease Autosomal recessive polycystic kidney disease
Variation info
Gene PKHD1
CLNDBN Autosomal recessive polycystic kidney disease
Reversed 1
HGVS NC_000006.11:g.51613095G>A
CLNSRC
CLNACC RCV000169496.2,