Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869320624
rs869320624
EMC1 ; EMC1-AS1
T 0.700 GeneticVariation CLINVAR Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. 27657687

2017
dbSNP: rs772037717
rs772037717
FBXL4
G 0.700 GeneticVariation CLINVAR A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13. 27182039

2016
dbSNP: rs869320624
rs869320624
EMC1 ; EMC1-AS1
T 0.700 GeneticVariation CLINVAR Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. 26942288

2016
dbSNP: rs1043679457
rs1043679457
ERCC8
G 0.700 CausalMutation CLINVAR

dbSNP: rs1057516264
rs1057516264
TPP1
TC 0.700 GeneticVariation CLINVAR

dbSNP: rs139632595
rs139632595
EXOSC9
C 0.700 CausalMutation CLINVAR

dbSNP: rs146539065
rs146539065
SEPSECS
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1554901898
rs1554901898
TPP1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1554902217
rs1554902217
TPP1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555642784
rs1555642784
CNTNAP1
TC 0.700 CausalMutation CLINVAR

dbSNP: rs1555706928
rs1555706928
SETBP1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs28936415
rs28936415
PMM2
A 0.700 CausalMutation CLINVAR

dbSNP: rs672601366
rs672601366
KIF1A
G 0.700 GeneticVariation CLINVAR

dbSNP: rs749203329
rs749203329
MLLT1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs776969714
rs776969714
SEPSECS
GC 0.700 CausalMutation CLINVAR

dbSNP: rs796052243
rs796052243
SPATA5
T 0.700 GeneticVariation CLINVAR

dbSNP: rs80338700
rs80338700
PMM2
T 0.700 CausalMutation CLINVAR

dbSNP: rs864309505
rs864309505
TPP1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs878853322
rs878853322
PPT1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs878853323
rs878853323
PPT1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs878853324
rs878853324
PPT1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs878853325
rs878853325
PPT1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs63750231
rs63750231
PSEN1
0.020 GeneticVariation BEFREE To investigate whether a similar pattern of cortical atrophy is present in presymptomatic presenilin 1 E280A mutation carriers an average of 6 years before clinical symptom onset. 23134660

2013
dbSNP: rs63750231
rs63750231
PSEN1
0.020 GeneticVariation BEFREE Neuropathologically, PS1 E280A cases show pronounced brain atrophy, severe amyloid-β pathology, distinct hyperphosphorylated tau-related pathology, and cerebellar damage. 22766738

2012
dbSNP: rs363050
rs363050
SNAP25 ; SNAP25-AS1
0.010 GeneticVariation BEFREE Recent results showed that a reduction of SNAP-25 is associated with dementia, and that the rs363050 SNAP-25 polymorphism correlates with cognitive decline and brain atrophy, as well as with the outcome of multistructured rehabilitation in AD patients. 30914946

2019