Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

rs1057516891

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516891(-;-)
Make rs1057516891(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position150799680
GeneCTSK
is asnp
is mentioned by
dbSNPrs1057516891
dbSNP (old)rs1057516891
ClinGenrs1057516891
ebirs1057516891
HLIrs1057516891
Exacrs1057516891
Gnomadrs1057516891
Varsomers1057516891
Maprs1057516891
PheGenIrs1057516891
Biobankrs1057516891
1000 genomesrs1057516891
hgdprs1057516891
ensemblrs1057516891
gopubmedrs1057516891
geneviewrs1057516891
scholarrs1057516891
googlers1057516891
pharmgkbrs1057516891
gwascentralrs1057516891
openSNPrs1057516891
23andMers1057516891
23andMe allrs1057516891
SNPshotrs1057516891
SNPdbers1057516891
MSV3drs1057516891
GWAS Ctlgrs1057516891
Max Magnitude0
ClinVar
Risk rs1057516891(-;-)
Alt rs1057516891(-;-)
Reference Rs1057516891(C;C)
Significance Probable-Pathogenic
Disease Pyknodysostosis
Variation info
Gene CTSK
CLNDBN Pyknodysostosis
Reversed 1
HGVS NC_000001.10:g.150772156delG
CLNSRC
CLNACC RCV000409568.1,