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rs1064793762

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 5 Polycystic Kidney Disease likely, but see discussion
Make rs1064793762(T;T)
Chromosome16
Position2108254
GeneMIR6511B1, PKD1
is asnp
is mentioned by
dbSNPrs1064793762
dbSNP (old)rs1064793762
ClinGenrs1064793762
ebirs1064793762
HLIrs1064793762
Exacrs1064793762
Gnomadrs1064793762
Varsomers1064793762
Maprs1064793762
PheGenIrs1064793762
Biobankrs1064793762
1000 genomesrs1064793762
hgdprs1064793762
ensemblrs1064793762
gopubmedrs1064793762
geneviewrs1064793762
scholarrs1064793762
googlers1064793762
pharmgkbrs1064793762
gwascentralrs1064793762
openSNPrs1064793762
23andMers1064793762
23andMe allrs1064793762
SNPshotrs1064793762
SNPdbers1064793762
MSV3drs1064793762
GWAS Ctlgrs1064793762
Max Magnitude5

c.6913C>T (p.Gln2305Ter)

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 rs1064793762(T;T)
Alt rs1064793762(T;T)
Reference Rs1064793762(C;C)
Significance Pathogenic
Disease not provided
Variation info
Gene MIR6511B1 PKD1
CLNDBN not provided
Reversed 1
HGVS NC_000016.9:g.2158255G>A
CLNSRC
CLNACC RCV000479218.1,