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rs1064794207

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 5 Polycystic Kidney Disease likely, but see discussion
Make rs1064794207(T;T)
Chromosome16
Position2116564
GenePKD1
is asnp
is mentioned by
dbSNPrs1064794207
dbSNP (old)rs1064794207
ClinGenrs1064794207
ebirs1064794207
HLIrs1064794207
Exacrs1064794207
Gnomadrs1064794207
Varsomers1064794207
Maprs1064794207
PheGenIrs1064794207
Biobankrs1064794207
1000 genomesrs1064794207
hgdprs1064794207
ensemblrs1064794207
gopubmedrs1064794207
geneviewrs1064794207
scholarrs1064794207
googlers1064794207
pharmgkbrs1064794207
gwascentralrs1064794207
openSNPrs1064794207
23andMers1064794207
23andMe allrs1064794207
SNPshotrs1064794207
SNPdbers1064794207
MSV3drs1064794207
GWAS Ctlgrs1064794207
Max Magnitude5

c.1687C>T (p.Gln563Ter)

It's likely that the variant allele is pathogenic for autosomal dominant polycystic kidney disease, given the way it is listed in ClinVar, however, it's also possible that it's associated with (only) the recessive form; the ClinVar submitter, GeneDX, did not provide additional details. If any expert has evidence indicating which it is associated with (dominant or recessive) please contact us or leave details on the Discussion page for this SNP.

ClinVar
Risk rs1064794207(T;T)
Alt rs1064794207(T;T)
Reference Rs1064794207(C;C)
Significance Pathogenic
Disease not provided
Variation info
Gene PKD1
CLNDBN not provided
Reversed 1
HGVS NC_000016.9:g.2166565G>A
CLNSRC
CLNACC RCV000480649.1,