Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869312812
rs869312812
PGAP3
TG 0.700 CausalMutation CLINVAR PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation. 28390064

2018
dbSNP: rs672601372
rs672601372
RARS1
G 0.700 CausalMutation CLINVAR Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease. 28905880

2017
dbSNP: rs773850151
rs773850151
FBXL4
T 0.700 GeneticVariation CLINVAR FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome. 27743463

2017
dbSNP: rs886037931
rs886037931
PYCR2
A 0.700 CausalMutation CLINVAR Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy. 27860360

2017
dbSNP: rs869312812
rs869312812
PGAP3
TG 0.700 CausalMutation CLINVAR Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome. 27120253

2016
dbSNP: rs773850151
rs773850151
FBXL4
T 0.700 GeneticVariation CLINVAR Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations. 25868664

2015
dbSNP: rs201257588
rs201257588
TBC1D24
G 0.700 CausalMutation CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220

2014
dbSNP: rs201257588
rs201257588
TBC1D24
G 0.700 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651

2014
dbSNP: rs312262830
rs312262830
OFD1
T 0.700 CausalMutation CLINVAR CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study. 24884629

2014
dbSNP: rs398122965
rs398122965
TBC1D24
T 0.700 CausalMutation CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220

2014
dbSNP: rs398122965
rs398122965
TBC1D24
T 0.700 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651

2014
dbSNP: rs398122966
rs398122966
TBC1D24
T 0.700 CausalMutation CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220

2014
dbSNP: rs398122966
rs398122966
TBC1D24
T 0.700 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651

2014
dbSNP: rs398122967
rs398122967
TBC1D24
A 0.700 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651

2014
dbSNP: rs398122967
rs398122967
TBC1D24
A 0.700 CausalMutation CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220

2014
dbSNP: rs398122968
rs398122968
TBC1D24
A 0.700 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651

2014
dbSNP: rs398122968
rs398122968
TBC1D24
A 0.700 CausalMutation CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220

2014
dbSNP: rs672601372
rs672601372
RARS1
G 0.700 CausalMutation CLINVAR Mutations in RARS cause hypomyelination. 24777941

2014
dbSNP: rs747821285
rs747821285
TBC1D24
A 0.700 CausalMutation CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220

2014
dbSNP: rs747821285
rs747821285
TBC1D24
A 0.700 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651

2014
dbSNP: rs760474458
rs760474458
TBC1D24
T 0.700 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651

2014
dbSNP: rs760474458
rs760474458
TBC1D24
T 0.700 CausalMutation CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220

2014
dbSNP: rs797044548
rs797044548
TBC1D24
T 0.700 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651

2014
dbSNP: rs797044548
rs797044548
TBC1D24
T 0.700 CausalMutation CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220

2014
dbSNP: rs397515352
rs397515352
CLN6
CG 0.700 CausalMutation CLINVAR CLN6 disease caused by the same mutation originating in Pakistan has varying pathology. 23735787

2013