Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1462319941
rs1462319941
WASHC5
A 0.700 CausalMutation CLINVAR A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort. 24065355

2013
dbSNP: rs1563627853
rs1563627853
WASHC5
C 0.700 GeneticVariation CLINVAR A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort. 24065355

2013
dbSNP: rs80338867
rs80338867
WASHC5
A 0.700 CausalMutation CLINVAR Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia. 17160902

2007
dbSNP: rs1563633906
rs1563633906
WASHC5
GT 0.700 CausalMutation CLINVAR

dbSNP: rs754463353
rs754463353
WASHC5
A 0.700 CausalMutation CLINVAR

dbSNP: rs765926045
rs765926045
WASHC5
A 0.700 CausalMutation CLINVAR