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rs180675584

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common/normal
(C;T) 3 Carrier of an autosomal recessive polycystic kidney disease mutation
Make rs180675584(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome6
Position51934319
GenePKHD1
is asnp
is mentioned by
dbSNPrs180675584
dbSNP (classic)rs180675584
ClinGenrs180675584
ebirs180675584
HLIrs180675584
Exacrs180675584
Gnomadrs180675584
Varsomers180675584
LitVarrs180675584
Maprs180675584
PheGenIrs180675584
Biobankrs180675584
1000 genomesrs180675584
hgdprs180675584
ensemblrs180675584
geneviewrs180675584
scholarrs180675584
googlers180675584
pharmgkbrs180675584
gwascentralrs180675584
openSNPrs180675584
23andMers180675584
SNPshotrs180675584
SNPdbers180675584
MSV3drs180675584
GWAS Ctlgrs180675584
Max Magnitude3
ClinVar
Risk rs180675584(T;T)
Alt rs180675584(T;T)
Reference Rs180675584(C;C)
Significance Pathogenic
Disease not provided
Variation info
Gene PKHD1
CLNDBN not provided
Reversed 0
HGVS NC_000006.11:g.51799117C>T
CLNSRC
CLNACC RCV000440845.1,