Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554967681
rs1554967681
T 0.700 CausalMutation CLINVAR SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN). 29419818

2018

dbSNP: rs1554967761
rs1554967761
T 0.700 CausalMutation CLINVAR SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN). 29419818

2018

dbSNP: rs1554969925
rs1554969925
G 0.700 CausalMutation CLINVAR SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN). 29419818

2018

dbSNP: rs1554970375
rs1554970375
T 0.700 CausalMutation CLINVAR SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN). 29419818

2018

dbSNP: rs1555582065
rs1555582065
T 0.700 GeneticVariation CLINVAR A recurrent de novo missense mutation in UBTF causes developmental neuroregression. 29300972

2018

dbSNP: rs942522644
rs942522644
T 0.700 CausalMutation CLINVAR SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN). 29419818

2018

dbSNP: rs1057518915
rs1057518915
A 0.700 CausalMutation CLINVAR

dbSNP: rs1424291552
rs1424291552
G 0.700 CausalMutation CLINVAR

dbSNP: rs1553878395
rs1553878395
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1565825132
rs1565825132
T 0.700 GeneticVariation CLINVAR

dbSNP: rs200133991
rs200133991
T 0.700 GeneticVariation CLINVAR

dbSNP: rs372949028
rs372949028
A 0.700 GeneticVariation CLINVAR

dbSNP: rs397514513
rs397514513
T 0.700 GeneticVariation CLINVAR

dbSNP: rs730882241
rs730882241
A 0.700 GeneticVariation CLINVAR

dbSNP: rs753376100
rs753376100
T 0.700 CausalMutation CLINVAR

dbSNP: rs769235753
rs769235753
T 0.700 GeneticVariation CLINVAR

dbSNP: rs796053356
rs796053356
A 0.700 GeneticVariation CLINVAR