Have questions? Visit https://www.reddit.com/r/SNPedia

rs1057516725

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516725(-;A)
Make rs1057516725(A;A)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position150805864
GeneCTSK
is asnp
is mentioned by
dbSNPrs1057516725
dbSNP (old)rs1057516725
ClinGenrs1057516725
ebirs1057516725
HLIrs1057516725
Exacrs1057516725
Gnomadrs1057516725
Varsomers1057516725
LitVarrs1057516725
Maprs1057516725
PheGenIrs1057516725
Biobankrs1057516725
1000 genomesrs1057516725
hgdprs1057516725
ensemblrs1057516725
gopubmedrs1057516725
geneviewrs1057516725
scholarrs1057516725
googlers1057516725
pharmgkbrs1057516725
gwascentralrs1057516725
openSNPrs1057516725
23andMers1057516725
23andMe allrs1057516725
SNPshotrs1057516725
SNPdbers1057516725
MSV3drs1057516725
GWAS Ctlgrs1057516725
Max Magnitude0
ClinVar
Risk rs1057516725(A;A)
Alt rs1057516725(A;A)
Reference Rs1057516725(-;-)
Significance Probable-Pathogenic
Disease Pyknodysostosis
Variation info
Gene CTSK
CLNDBN Pyknodysostosis
Reversed 1
HGVS NC_000001.10:g.150778341dupT
CLNSRC
CLNACC RCV000412028.1,