Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606819
rs267606819
FLVCR1 ; FLVCR1-DT
0.800 GeneticVariation UNIPROT Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1. 21267618

2011
dbSNP: rs267606820
rs267606820
FLVCR1 ; FLVCR1-DT
0.800 GeneticVariation UNIPROT Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1. 21267618

2011
dbSNP: rs267606821
rs267606821
FLVCR1 ; FLVCR1-DT
0.800 GeneticVariation UNIPROT Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1. 21267618

2011
dbSNP: rs267606819
rs267606819
FLVCR1 ; FLVCR1-DT
0.800 GeneticVariation UNIPROT Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa. 21070897

2010
dbSNP: rs267606820
rs267606820
FLVCR1 ; FLVCR1-DT
0.800 GeneticVariation UNIPROT Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa. 21070897

2010
dbSNP: rs267606821
rs267606821
FLVCR1 ; FLVCR1-DT
0.800 GeneticVariation UNIPROT Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa. 21070897

2010
dbSNP: rs267606819
rs267606819
FLVCR1 ; FLVCR1-DT
A 0.800 CausalMutation CLINVAR

dbSNP: rs267606820
rs267606820
FLVCR1 ; FLVCR1-DT
G 0.800 CausalMutation CLINVAR

dbSNP: rs267606821
rs267606821
FLVCR1 ; FLVCR1-DT
C 0.800 CausalMutation CLINVAR

dbSNP: rs1558121050
rs1558121050
FLVCR1
C 0.700 CausalMutation CLINVAR

dbSNP: rs556788423
rs556788423
FLVCR1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs753000469
rs753000469
FLVCR1 ; FLVCR1-DT
0.010 GeneticVariation BEFREE Posterior column ataxia with retinitis pigmentosa coexisting with sensory-autonomic neuropathy and leukemia due to the homozygous p.Pro221Ser FLVCR1 mutation. 28766925

2017