Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555817157
rs1555817157
ABHD12
A 0.700 CausalMutation CLINVAR Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene. 29571850

2018
dbSNP: rs1555789140
rs1555789140
SNX5 ; OVOL2 ; MGME1
T 0.700 CausalMutation CLINVAR Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia. 28711739

2017
dbSNP: rs779027563
rs779027563
CNTNAP1
C 0.700 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699

2017
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: rs672601368
rs672601368
KIF1A
T 0.700 CausalMutation CLINVAR De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome. 26486474

2016
dbSNP: rs752298579
rs752298579
TANGO2
A 0.700 CausalMutation CLINVAR Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. 26805781

2016
dbSNP: rs863223953
rs863223953
DNM1L ; YARS2
T 0.700 CausalMutation CLINVAR DNM1L-related mitochondrial fission defect presenting as refractory epilepsy. 26604000

2016
dbSNP: rs863223953
rs863223953
DNM1L ; YARS2
T 0.700 CausalMutation CLINVAR A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy. 27145208

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: rs63750687
rs63750687
PSEN1
T 0.700 GeneticVariation CLINVAR A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease. 24121961

2014
dbSNP: rs1057516264
rs1057516264
TPP1
TC 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518813
rs1057518813
ERCC5 ; BIVM-ERCC5
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519429
rs1057519429
CACNA1A
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1114167295
rs1114167295
MAGED2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1114167296
rs1114167296
TMEM47
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1208636573
rs1208636573
MSTO1 ; LOC105371452
T 0.700 GeneticVariation CLINVAR

dbSNP: rs139632595
rs139632595
EXOSC9
C 0.700 CausalMutation CLINVAR

dbSNP: rs1553281318
rs1553281318
COQ8A
GA 0.700 GeneticVariation CLINVAR

dbSNP: rs1554107200
rs1554107200
HARS1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1554699491
rs1554699491
AGTPBP1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1554768245
rs1554768245
SYNE1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1554901898
rs1554901898
TPP1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1554902217
rs1554902217
TPP1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555570110
rs1555570110
MPDU1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555642784
rs1555642784
CNTNAP1
TC 0.700 CausalMutation CLINVAR