Gene: C17orf100 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs548065551
rs548065551
SLC13A5 ; C17orf100 ; ALOX15P1
A 0.800 CausalMutation CLINVAR

dbSNP: rs587777578
rs587777578
SLC13A5 ; C17orf100 ; ALOX15P1
G 0.800 GeneticVariation CLINVAR

dbSNP: rs587777578
rs587777578
SLC13A5 ; C17orf100 ; ALOX15P1
G 0.800 CausalMutation CLINVAR

dbSNP: rs863225448
rs863225448
SLC13A5 ; C17orf100 ; ALOX15P1
G 0.800 CausalMutation CLINVAR

dbSNP: rs1057519449
rs1057519449
SLC13A5 ; C17orf100 ; ALOX15P1
G 0.700 GeneticVariation CLINVAR Analyses of SLC13A5-epilepsy patients reveal perturbations of TCA cycle. 28673551

2017
dbSNP: rs1057519449
rs1057519449
SLC13A5 ; C17orf100 ; ALOX15P1
G 0.700 GeneticVariation CLINVAR Mutations in the Na(+)/citrate cotransporter NaCT (SLC13A5) in pediatric patients with epilepsy and developmental delay. 27261973

2016
dbSNP: rs1057519449
rs1057519449
SLC13A5 ; C17orf100 ; ALOX15P1
G 0.700 CausalMutation CLINVAR

dbSNP: rs863225447
rs863225447
SLC13A5 ; C17orf100 ; ALOX15P1
CACTTTCTCCTG 0.700 CausalMutation CLINVAR