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rs1057516790

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516790(-;-)
Make rs1057516790(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position150806758
GeneCTSK
is asnp
is mentioned by
dbSNPrs1057516790
dbSNP (old)rs1057516790
ClinGenrs1057516790
ebirs1057516790
HLIrs1057516790
Exacrs1057516790
Gnomadrs1057516790
Varsomers1057516790
LitVarrs1057516790
Maprs1057516790
PheGenIrs1057516790
Biobankrs1057516790
1000 genomesrs1057516790
hgdprs1057516790
ensemblrs1057516790
gopubmedrs1057516790
geneviewrs1057516790
scholarrs1057516790
googlers1057516790
pharmgkbrs1057516790
gwascentralrs1057516790
openSNPrs1057516790
23andMers1057516790
23andMe allrs1057516790
SNPshotrs1057516790
SNPdbers1057516790
MSV3drs1057516790
GWAS Ctlgrs1057516790
Max Magnitude0
ClinVar
Risk rs1057516790(-;-)
Alt rs1057516790(-;-)
Reference Rs1057516790(G;G)
Significance Probable-Pathogenic
Disease Pyknodysostosis
Variation info
Gene CTSK
CLNDBN Pyknodysostosis
Reversed 1
HGVS NC_000001.10:g.150779234delC
CLNSRC
CLNACC RCV000412289.1,