Gene: CACNA1F ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1557110499
rs1557110499
CACNA1F
C 0.700 GeneticVariation CLINVAR A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants. 11281458

2001
dbSNP: rs122456134
rs122456134
CACNA1F
A 0.700 CausalMutation CLINVAR An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness. 9662399

1998
dbSNP: rs1557110192
rs1557110192
CACNA1F
A 0.700 CausalMutation CLINVAR Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness. 9662400

1998
dbSNP: rs122456135
rs122456135
CACNA1F
A 0.700 CausalMutation CLINVAR

dbSNP: rs1557106008
rs1557106008
CACNA1F
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1557107192
rs1557107192
CACNA1F
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1557107417
rs1557107417
CACNA1F
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1557108147
rs1557108147
CACNA1F
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1557109796
rs1557109796
CACNA1F
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1557109912
rs1557109912
CACNA1F
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1557110046
rs1557110046
CACNA1F
TA 0.700 GeneticVariation CLINVAR

dbSNP: rs1557110988
rs1557110988
CACNA1F
A 0.700 GeneticVariation CLINVAR