HLCS, holocarboxylase synthetase, 3141

N. diseases: 63; N. variants: 41
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs119103227
rs119103227
Entrez Id: 3141
Gene Symbol: HLCS
HLCS
CUI: C0268581
Disease:
Holocarboxylase Synthetase Deficiency
G 0.800 CausalMutation CLINVAR
dbSNP: rs119103228
rs119103228
Entrez Id: 3141
Gene Symbol: HLCS
HLCS
CUI: C0268581
Disease:
Holocarboxylase Synthetase Deficiency
T 0.800 CausalMutation CLINVAR
dbSNP: rs119103230
rs119103230
Entrez Id: 3141
Gene Symbol: HLCS
HLCS
CUI: C0268581
Disease:
Holocarboxylase Synthetase Deficiency
0.800 GeneticVariation UNIPROT
dbSNP: rs119103231
rs119103231
Entrez Id: 3141
Gene Symbol: HLCS
HLCS
CUI: C0268581
Disease:
Holocarboxylase Synthetase Deficiency
0.800 GeneticVariation UNIPROT
dbSNP: rs28934602
rs28934602
Entrez Id: 3141
Gene Symbol: HLCS
HLCS
CUI: C0268581
Disease:
Holocarboxylase Synthetase Deficiency
C 0.800 CausalMutation CLINVAR
dbSNP: rs1175936807
rs1175936807
Entrez Id: 3141
Gene Symbol: HLCS
HLCS
CUI: C0268581
Disease:
Holocarboxylase Synthetase Deficiency
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1256356959
rs1256356959
Entrez Id: 3141
Gene Symbol: HLCS
HLCS
CUI: C0268581
Disease:
Holocarboxylase Synthetase Deficiency
0.700 GeneticVariation UNIPROT
dbSNP: rs1261821166
rs1261821166
Entrez Id: 3141
Gene Symbol: HLCS
HLCS
CUI: C0268581
Disease:
Holocarboxylase Synthetase Deficiency
0.700 GeneticVariation UNIPROT
dbSNP: rs1284747916
rs1284747916
Entrez Id: 3141
Gene Symbol: HLCS
HLCS
CUI: C0268581
Disease:
Holocarboxylase Synthetase Deficiency
C 0.700 GeneticVariation CLINVAR
dbSNP: rs144572349
rs144572349
Entrez Id: 3141
Gene Symbol: HLCS
HLCS
CUI: C0268581
Disease:
Holocarboxylase Synthetase Deficiency
T 0.700 GeneticVariation CLINVAR
dbSNP: rs148324626
rs148324626
Entrez Id: 3141
Gene Symbol: HLCS
HLCS
CUI: C0268581
Disease:
Holocarboxylase Synthetase Deficiency
A 0.700 CausalMutation CLINVAR
dbSNP: rs149399432
rs149399432
Entrez Id: 3141
Gene Symbol: HLCS
HLCS
CUI: C0268581
Disease:
Holocarboxylase Synthetase Deficiency
0.700 GeneticVariation UNIPROT
dbSNP: rs1555882068
rs1555882068
Entrez Id: 3141
Gene Symbol: HLCS
HLCS
CUI: C0268581
Disease:
Holocarboxylase Synthetase Deficiency
TG 0.700 GeneticVariation CLINVAR
dbSNP: rs1555930523
rs1555930523
Entrez Id: 3141
Gene Symbol: HLCS
HLCS
CUI: C0268581
Disease:
Holocarboxylase Synthetase Deficiency
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555951858
rs1555951858
Entrez Id: 3141
Gene Symbol: HLCS
HLCS
CUI: C0268581
Disease:
Holocarboxylase Synthetase Deficiency
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555955827
rs1555955827
Entrez Id: 3141
Gene Symbol: HLCS
HLCS
CUI: C0268581
Disease:
Holocarboxylase Synthetase Deficiency
TC 0.700 GeneticVariation CLINVAR
dbSNP: rs1569218416
rs1569218416
Entrez Id: 3141
Gene Symbol: HLCS
HLCS
CUI: C0268581
Disease:
Holocarboxylase Synthetase Deficiency
A 0.700 CausalMutation CLINVAR
dbSNP: rs376899782
rs376899782
Entrez Id: 3141
Gene Symbol: HLCS
HLCS
CUI: C0268581
Disease:
Holocarboxylase Synthetase Deficiency
0.700 GeneticVariation UNIPROT
dbSNP: rs61732504
rs61732504
Entrez Id: 3141
Gene Symbol: HLCS
HLCS
CUI: C0268581
Disease:
Holocarboxylase Synthetase Deficiency
0.700 GeneticVariation UNIPROT
dbSNP: rs61732504
rs61732504
Entrez Id: 3141
Gene Symbol: HLCS
HLCS
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.700 GeneticVariation UNIPROT
dbSNP: rs750728042
rs750728042
Entrez Id: 3141
Gene Symbol: HLCS
HLCS
CUI: C0268581
Disease:
Holocarboxylase Synthetase Deficiency
C 0.700 GeneticVariation CLINVAR
dbSNP: rs766163167
rs766163167
Entrez Id: 3141
Gene Symbol: HLCS
HLCS
CUI: C0268581
Disease:
Holocarboxylase Synthetase Deficiency
CT 0.700 GeneticVariation CLINVAR
dbSNP: rs773102942
rs773102942
Entrez Id: 3141
Gene Symbol: HLCS
HLCS
CUI: C0268581
Disease:
Holocarboxylase Synthetase Deficiency
AT 0.700 CausalMutation CLINVAR
dbSNP: rs773398782
rs773398782
Entrez Id: 3141
Gene Symbol: HLCS
HLCS
CUI: C0268581
Disease:
Holocarboxylase Synthetase Deficiency
T 0.700 GeneticVariation CLINVAR
dbSNP: rs119103227
rs119103227
Entrez Id: 3141
Gene Symbol: HLCS
HLCS
CUI: C0268581
Disease:
Holocarboxylase Synthetase Deficiency
0.800 GeneticVariation UNIPROT Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA. 7842009 1994