Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908377
rs121908377
FOXP2
0.810 GeneticVariation BEFREE Nonetheless, clinical manifestations were broader and more severe in the three cases carrying the p.R514H FOXP1 variant than in individuals with the p.R553H variant related to CAS, highlighting divergent roles of FOXP2 and FOXP1 in neurodevelopment. 28741757

2017
dbSNP: rs121908377
rs121908377
FOXP2
0.810 GeneticVariation UNIPROT De novo TBR1 mutations in sporadic autism disrupt protein functions. 25232744

2014
dbSNP: rs121908377
rs121908377
FOXP2
0.810 GeneticVariation UNIPROT A forkhead-domain gene is mutated in a severe speech and language disorder. 11586359

2001
dbSNP: rs121908377
rs121908377
FOXP2
A 0.810 CausalMutation CLINVAR A forkhead-domain gene is mutated in a severe speech and language disorder. 11586359

2001
dbSNP: rs121908378
rs121908378
FOXP2
0.710 GeneticVariation BEFREE This inhibition is diminished by two distinct FOXP2 point mutations, R553H and R328X, which were previously found in families affected by developmental verbal dyspraxia. 22434823

2012
dbSNP: rs121908378
rs121908378
FOXP2
T 0.710 CausalMutation CLINVAR Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits. 15877281

2005
dbSNP: rs879253771
rs879253771
FOXP2 ; MIR3666
A 0.700 CausalMutation CLINVAR Small intragenic deletion in FOXP2 associated with childhood apraxia of speech and dysarthria. 23918746

2013
dbSNP: rs879253772
rs879253772
FOXP2
C 0.700 CausalMutation CLINVAR Molecular networks implicated in speech-related disorders: FOXP2 regulates the SRPX2/uPAR complex. 20858596

2010
dbSNP: rs201649896
rs201649896
FOXP2
T 0.700 CausalMutation CLINVAR Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits. 15877281

2005
dbSNP: rs761316361
rs761316361
FOXP2
GCAGCAGCAACAA 0.700 CausalMutation CLINVAR Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits. 15877281

2005
dbSNP: rs1135401820
rs1135401820
FOXP2
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1178491246
rs1178491246
FOXP2
T 0.700 CausalMutation CLINVAR

dbSNP: rs61745597
rs61745597
ZGRF1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs76187047
rs76187047
ZGRF1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs6725189
rs6725189 		0.010 GeneticVariation BEFREE Both rs693 and rs6725189 of the apoB gene are associated with CAS in Chinese subjects, in Xinjiang, China. 29514644

2018
dbSNP: rs693
rs693
APOB
0.010 GeneticVariation BEFREE Both rs693 and rs6725189 of the apoB gene are associated with CAS in Chinese subjects, in Xinjiang, China. 29514644

2018
dbSNP: rs1433722257
rs1433722257
FOXP1
0.010 GeneticVariation BEFREE Nonetheless, clinical manifestations were broader and more severe in the three cases carrying the p.R514H FOXP1 variant than in individuals with the p.R553H variant related to CAS, highlighting divergent roles of FOXP2 and FOXP1 in neurodevelopment. 28741757

2017
dbSNP: rs761606953
rs761606953
FOXP1
0.010 GeneticVariation BEFREE Nonetheless, clinical manifestations were broader and more severe in the three cases carrying the p.R514H FOXP1 variant than in individuals with the p.R553H variant related to CAS, highlighting divergent roles of FOXP2 and FOXP1 in neurodevelopment. 28741757

2017
dbSNP: rs797045586
rs797045586
FOXP1
0.010 GeneticVariation BEFREE Nonetheless, clinical manifestations were broader and more severe in the three cases carrying the p.R514H FOXP1 variant than in individuals with the p.R553H variant related to CAS, highlighting divergent roles of FOXP2 and FOXP1 in neurodevelopment. 28741757

2017
dbSNP: rs563378859
rs563378859
TP53
0.010 GeneticVariation BEFREE Here we show, by whole-exome sequencing of a TP53-negative Li-Fraumeni-like (LFL) family including CAS cases, that a missense variant (p.R117C) in POT1 (protection of telomeres 1) gene is responsible for CAS. 26403419

2015
dbSNP: rs6003
rs6003
F13B
0.010 GeneticVariation BEFREE The p.His95Arg polymorphism did not influence the risk of CAS or MI. 25569091

2015
dbSNP: rs780936436
rs780936436
POT1
0.010 GeneticVariation BEFREE Here we show, by whole-exome sequencing of a TP53-negative Li-Fraumeni-like (LFL) family including CAS cases, that a missense variant (p.R117C) in POT1 (protection of telomeres 1) gene is responsible for CAS. 26403419

2015
dbSNP: rs1466535
rs1466535
LRP1
0.010 GeneticVariation BEFREE The rs1466535 LRP1 polymorphism is not a significant and independent risk factor for CAS. 25238221

2014
dbSNP: rs75391579
rs75391579
GALT
0.010 GeneticVariation BEFREE We conclude that homozygosity for Q188R mutations in the GALT gene is a significant risk factor for DVD. 11397328

2005
dbSNP: rs1131012
rs1131012
PECAM1
0.010 GeneticVariation BEFREE These data confirm the association of the R643G polymorphism with MI and CAS and suggest that greater influx of monocytes in individuals homozygous for the 643G may explain the association with CAS. 15488875

2004