CLN5, CLN5 intracellular trafficking protein, 1203

N. diseases: 43; N. variants: 66
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28940280
rs28940280
Entrez Id: 1203;26224
Gene Symbol: CLN5;FBXL3
CLN5;FBXL3
CUI: C1850442
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 5
A 0.810 CausalMutation CLINVAR
dbSNP: rs104894386
rs104894386
Entrez Id: 1203;26224
Gene Symbol: CLN5;FBXL3
CLN5;FBXL3
CUI: C1850442
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 5
C 0.800 GeneticVariation CLINVAR
dbSNP: rs148862100
rs148862100
Entrez Id: 1203;26224
Gene Symbol: CLN5;FBXL3
CLN5;FBXL3
CUI: C1850442
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 5
G 0.800 CausalMutation CLINVAR
dbSNP: rs386833975
rs386833975
Entrez Id: 1203;26224
Gene Symbol: CLN5;FBXL3
CLN5;FBXL3
CUI: C1850442
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 5
G 0.800 GeneticVariation CLINVAR
dbSNP: rs386833976
rs386833976
Entrez Id: 1203;26224
Gene Symbol: CLN5;FBXL3
CLN5;FBXL3
CUI: C1850442
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 5
C 0.800 GeneticVariation CLINVAR
dbSNP: rs386833977
rs386833977
Entrez Id: 1203;26224
Gene Symbol: CLN5;FBXL3
CLN5;FBXL3
CUI: C1850442
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 5
T 0.800 GeneticVariation CLINVAR
dbSNP: rs386833978
rs386833978
Entrez Id: 1203;26224
Gene Symbol: CLN5;FBXL3
CLN5;FBXL3
CUI: C1850442
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 5
C 0.800 GeneticVariation CLINVAR
dbSNP: rs386833981
rs386833981
Entrez Id: 1203;26224
Gene Symbol: CLN5;FBXL3
CLN5;FBXL3
CUI: C1850442
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 5
G 0.800 GeneticVariation CLINVAR
dbSNP: rs104894385
rs104894385
Entrez Id: 1203;26224
Gene Symbol: CLN5;FBXL3
CLN5;FBXL3
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses
A 0.700 CausalMutation CLINVAR
dbSNP: rs104894386
rs104894386
Entrez Id: 1203;26224
Gene Symbol: CLN5;FBXL3
CLN5;FBXL3
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses
C 0.700 CausalMutation CLINVAR
dbSNP: rs1057516390
rs1057516390
Entrez Id: 1203;26224
Gene Symbol: CLN5;FBXL3
CLN5;FBXL3
CUI: C1850442
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 5
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516814
rs1057516814
Entrez Id: 1203;26224
Gene Symbol: CLN5;FBXL3
CLN5;FBXL3
CUI: C1850442
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 5
G 0.700 GeneticVariation CLINVAR
dbSNP: rs1057517134
rs1057517134
Entrez Id: 1203;26224
Gene Symbol: CLN5;FBXL3
CLN5;FBXL3
CUI: C1850442
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 5
C 0.700 GeneticVariation CLINVAR
dbSNP: rs121908292
rs121908292
Entrez Id: 1203;26224
Gene Symbol: CLN5;FBXL3
CLN5;FBXL3
CUI: C1850442
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 5
T 0.700 CausalMutation CLINVAR
dbSNP: rs147065248
rs147065248
Entrez Id: 1203;26224
Gene Symbol: CLN5;FBXL3
CLN5;FBXL3
CUI: C1850442
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 5
0.700 GeneticVariation UNIPROT
dbSNP: rs1555273567
rs1555273567
Entrez Id: 1203;26224
Gene Symbol: CLN5;FBXL3
CLN5;FBXL3
CUI: C1850442
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 5
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555273604
rs1555273604
Entrez Id: 1203;26224
Gene Symbol: CLN5;FBXL3
CLN5;FBXL3
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses
GTGGATCCGGGC 0.700 CausalMutation CLINVAR
dbSNP: rs1555273609
rs1555273609
Entrez Id: 1203;26224
Gene Symbol: CLN5;FBXL3
CLN5;FBXL3
CUI: C1850442
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 5
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1555273881
rs1555273881
Entrez Id: 1203;26224
Gene Symbol: CLN5;FBXL3
CLN5;FBXL3
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses
T 0.700 CausalMutation CLINVAR
dbSNP: rs1555273882
rs1555273882
Entrez Id: 1203;26224
Gene Symbol: CLN5;FBXL3
CLN5;FBXL3
CUI: C1850442
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 5
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555273992
rs1555273992
Entrez Id: 1203;26224
Gene Symbol: CLN5;FBXL3
CLN5;FBXL3
CUI: C1850442
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 5
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555274005
rs1555274005
Entrez Id: 1203;26224
Gene Symbol: CLN5;FBXL3
CLN5;FBXL3
CUI: C1850442
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 5
TTGATG 0.700 CausalMutation CLINVAR
dbSNP: rs1555274014
rs1555274014
Entrez Id: 1203;26224
Gene Symbol: CLN5;FBXL3
CLN5;FBXL3
CUI: C1850442
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 5
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555274312
rs1555274312
Entrez Id: 1203;26224
Gene Symbol: CLN5;FBXL3
CLN5;FBXL3
CUI: C1850442
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 5
A 0.700 CausalMutation CLINVAR
dbSNP: rs1555274337
rs1555274337
Entrez Id: 1203;26224
Gene Symbol: CLN5;FBXL3
CLN5;FBXL3
CUI: C1850442
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 5
GCAGAGACA 0.700 GeneticVariation CLINVAR