TUBB4B, tubulin beta 4B class IVb, 10383

N. diseases: 46; N. variants: 2
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554786802
rs1554786802
Entrez Id: 10383;401565
Gene Symbol: TUBB4B;FAM166A
TUBB4B;FAM166A
CUI: C4693498
Disease:
LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS 		0.800 GeneticVariation UNIPROT Mutations in TUBB4B Cause a Distinctive Sensorineural Disease. 29198720 2017
dbSNP: rs1554786802
rs1554786802
Entrez Id: 10383;401565
Gene Symbol: TUBB4B;FAM166A
TUBB4B;FAM166A
CUI: C4693498
Disease:
LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS 		T 0.800 GeneticVariation CLINVAR Mutations in TUBB4B Cause a Distinctive Sensorineural Disease. 29198720 2017
dbSNP: rs1554786803
rs1554786803
Entrez Id: 10383;401565
Gene Symbol: TUBB4B;FAM166A
TUBB4B;FAM166A
CUI: C4693498
Disease:
LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS 		0.800 GeneticVariation UNIPROT Mutations in TUBB4B Cause a Distinctive Sensorineural Disease. 29198720 2017
dbSNP: rs1554786803
rs1554786803
Entrez Id: 10383;401565
Gene Symbol: TUBB4B;FAM166A
TUBB4B;FAM166A
CUI: C4693498
Disease:
LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS 		A 0.800 GeneticVariation CLINVAR Mutations in TUBB4B Cause a Distinctive Sensorineural Disease. 29198720 2017