CTSK, cathepsin K, 1513

N. diseases: 221; N. variants: 36
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315304
rs74315304
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis
A 0.810 CausalMutation CLINVAR
dbSNP: rs29001685
rs29001685
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis
G 0.800 CausalMutation CLINVAR
dbSNP: rs29001685
rs29001685
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis
0.800 GeneticVariation UNIPROT
dbSNP: rs74315302
rs74315302
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis
G 0.800 CausalMutation CLINVAR
dbSNP: rs74315305
rs74315305
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis
T 0.800 CausalMutation CLINVAR
dbSNP: rs1057516587
rs1057516587
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516627
rs1057516627
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis
G 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516725
rs1057516725
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis
AT 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516790
rs1057516790
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516839
rs1057516839
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516891
rs1057516891
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1057517263
rs1057517263
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1057517279
rs1057517279
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1553196764
rs1553196764
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis
CAGCTGTAAGACCAATCAAGAAAA 0.700 GeneticVariation CLINVAR
dbSNP: rs1553196934
rs1553196934
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1553196945
rs1553196945
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1553197230
rs1553197230
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1553197239
rs1553197239
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1553197262
rs1553197262
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis
G 0.700 GeneticVariation CLINVAR
dbSNP: rs1557823855
rs1557823855
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis
A 0.700 CausalMutation CLINVAR
dbSNP: rs74315301
rs74315301
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis
C 0.700 CausalMutation CLINVAR
dbSNP: rs74315303
rs74315303
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis
A 0.700 CausalMutation CLINVAR
dbSNP: rs74315306
rs74315306
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis
A 0.700 CausalMutation CLINVAR
dbSNP: rs75481239
rs75481239
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis
C 0.700 GeneticVariation CLINVAR
dbSNP: rs758450569
rs758450569
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
CUI: C0238402
Disease:
Pycnodysostosis
ATT 0.700 GeneticVariation CLINVAR