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rs1057518604

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;C) 5 Polycystic Kidney Disease likely, but see discussion
(C;C) 0 common in clinvar


Make rs1057518604(-;-)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position2103688
GenePKD1
is asnp
is mentioned by
dbSNPrs1057518604
dbSNP (old)rs1057518604
ClinGenrs1057518604
ebirs1057518604
HLIrs1057518604
Exacrs1057518604
Gnomadrs1057518604
Varsomers1057518604
Maprs1057518604
PheGenIrs1057518604
Biobankrs1057518604
1000 genomesrs1057518604
hgdprs1057518604
ensemblrs1057518604
gopubmedrs1057518604
geneviewrs1057518604
scholarrs1057518604
googlers1057518604
pharmgkbrs1057518604
gwascentralrs1057518604
openSNPrs1057518604
23andMers1057518604
23andMe allrs1057518604
SNPshotrs1057518604
SNPdbers1057518604
MSV3drs1057518604
GWAS Ctlgrs1057518604
Max Magnitude5

c.8369delC (p.Pro2790Argfs)

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 rs1057518604(-;-)
Alt rs1057518604(-;-)
Reference Rs1057518604(C;C)
Significance Pathogenic
Disease not provided
Variation info
Gene PKD1
CLNDBN not provided
Reversed 1
HGVS NC_000016.9:g.2153689delG
CLNSRC
CLNACC RCV000413759.1,