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rs1057516839

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516839(-;-)
Make rs1057516839(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position150805859
GeneCTSK
is asnp
is mentioned by
dbSNPrs1057516839
dbSNP (old)rs1057516839
ClinGenrs1057516839
ebirs1057516839
HLIrs1057516839
Exacrs1057516839
Gnomadrs1057516839
Varsomers1057516839
LitVarrs1057516839
Maprs1057516839
PheGenIrs1057516839
Biobankrs1057516839
1000 genomesrs1057516839
hgdprs1057516839
ensemblrs1057516839
gopubmedrs1057516839
geneviewrs1057516839
scholarrs1057516839
googlers1057516839
pharmgkbrs1057516839
gwascentralrs1057516839
openSNPrs1057516839
23andMers1057516839
23andMe allrs1057516839
SNPshotrs1057516839
SNPdbers1057516839
MSV3drs1057516839
GWAS Ctlgrs1057516839
Max Magnitude0
ClinVar
Risk rs1057516839(-;-)
Alt rs1057516839(-;-)
Reference Rs1057516839(T;T)
Significance Probable-Pathogenic
Disease Pyknodysostosis
Variation info
Gene CTSK
CLNDBN Pyknodysostosis
Reversed 1
HGVS NC_000001.10:g.150778335delA
CLNSRC
CLNACC RCV000411145.1,