TBC1D7, TBC1 domain family member 7, 51256

N. diseases: 26; N. variants: 7
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1223397
rs1223397
Entrez Id: 51256;221692;107080638
Gene Symbol: TBC1D7;PHACTR1;TBC1D7-LOC100130357
TBC1D7;PHACTR1;TBC1D7-LOC100130357
CUI: C0005823
Disease:
Blood Pressure 		0.800 GeneticVariation GWASDB Genome-wide linkage and association scans for pulse pressure in Chinese twins. 22763476 2012
dbSNP: rs1223397
rs1223397
Entrez Id: 51256;221692;107080638
Gene Symbol: TBC1D7;PHACTR1;TBC1D7-LOC100130357
TBC1D7;PHACTR1;TBC1D7-LOC100130357
CUI: C0005823
Disease:
Blood Pressure 		0.800 GeneticVariation GWASCAT Genome-wide linkage and association scans for pulse pressure in Chinese twins. 22763476 2012
dbSNP: rs748743403
rs748743403
Entrez Id: 51256;221692;100130357;107080638
Gene Symbol: TBC1D7;PHACTR1;LOC100130357;TBC1D7-LOC100130357
TBC1D7;PHACTR1;LOC100130357;TBC1D7-LOC100130357
CUI: C4749023
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70 		T 0.800 CausalMutation CLINVAR
dbSNP: rs748743403
rs748743403
Entrez Id: 51256;221692;100130357;107080638
Gene Symbol: TBC1D7;PHACTR1;LOC100130357;TBC1D7-LOC100130357
TBC1D7;PHACTR1;LOC100130357;TBC1D7-LOC100130357
CUI: C4749023
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70 		0.800 GeneticVariation UNIPROT
dbSNP: rs1223397
rs1223397
Entrez Id: 51256;221692;107080638
Gene Symbol: TBC1D7;PHACTR1;TBC1D7-LOC100130357
TBC1D7;PHACTR1;TBC1D7-LOC100130357
CUI: C0596887
Disease:
mathematical ability 		C 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs1554192525
rs1554192525
Entrez Id: 51256;107080638
Gene Symbol: TBC1D7;TBC1D7-LOC100130357
TBC1D7;TBC1D7-LOC100130357
CUI: C3806412
Disease:
MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE 		CT 0.700 CausalMutation CLINVAR
dbSNP: rs1562103192
rs1562103192
Entrez Id: 51256;221692;100130357;107080638
Gene Symbol: TBC1D7;PHACTR1;LOC100130357;TBC1D7-LOC100130357
TBC1D7;PHACTR1;LOC100130357;TBC1D7-LOC100130357
CUI: C4749023
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1562114406
rs1562114406
Entrez Id: 51256;221692;100130357;107080638
Gene Symbol: TBC1D7;PHACTR1;LOC100130357;TBC1D7-LOC100130357
TBC1D7;PHACTR1;LOC100130357;TBC1D7-LOC100130357
CUI: C4749023
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70 		0.700 CausalMutation CLINVAR
dbSNP: rs483352922
rs483352922
Entrez Id: 51256;107080638
Gene Symbol: TBC1D7;TBC1D7-LOC100130357
TBC1D7;TBC1D7-LOC100130357
CUI: C3806412
Disease:
MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE 		T 0.700 CausalMutation CLINVAR
dbSNP: rs587777652
rs587777652
Entrez Id: 51256;107080638
Gene Symbol: TBC1D7;TBC1D7-LOC100130357
TBC1D7;TBC1D7-LOC100130357
CUI: C3806412
Disease:
MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE 		T 0.700 CausalMutation CLINVAR