Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs554294508
rs554294508
EXTL3
0.800 GeneticVariation UNIPROT EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay. 28148688

2017
dbSNP: rs554294508
rs554294508
EXTL3
0.800 GeneticVariation UNIPROT Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome. 28132690

2017
dbSNP: rs770842408
rs770842408
EXTL3
0.800 GeneticVariation UNIPROT EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay. 28148688

2017
dbSNP: rs770842408
rs770842408
EXTL3
0.800 GeneticVariation UNIPROT Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome. 28132690

2017
dbSNP: rs554294508
rs554294508
EXTL3
T 0.800 CausalMutation CLINVAR

dbSNP: rs747676107
rs747676107
EXTL3
0.800 GeneticVariation UNIPROT

dbSNP: rs747676107
rs747676107
EXTL3
T 0.800 CausalMutation CLINVAR

dbSNP: rs770842408
rs770842408
EXTL3
G 0.800 CausalMutation CLINVAR

dbSNP: rs1332006145
rs1332006145
EXTL3
0.700 GeneticVariation UNIPROT

dbSNP: rs749621890
rs749621890
EXTL3
T 0.700 GeneticVariation CLINVAR