rs1242078669
×
Entrez Id:
667
Gene Symbol:
DST
DST
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI
A
0.700
GeneticVariation
CLINVAR
rs1330945347
×
Entrez Id:
667
Gene Symbol:
DST
DST
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI
T
0.700
GeneticVariation
CLINVAR
rs1562435373
×
Entrez Id:
667
Gene Symbol:
DST
DST
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI
A
0.700
GeneticVariation
CLINVAR
rs185968827
DST;DST-AS1
Alzheimer's Disease
A
0.700
GeneticVariation
GWASCAT
Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3.
26830138
2016
rs201045495
×
Entrez Id:
667
Gene Symbol:
DST
DST
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI
A
0.700
CausalMutation
CLINVAR
Founder mutation in dystonin-e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait.
25059916
2015
rs201045495
×
Entrez Id:
667
Gene Symbol:
DST
DST
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI
A
0.700
CausalMutation
CLINVAR
A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex.
20164846
2010
rs201045495
×
Entrez Id:
667
Gene Symbol:
DST
DST
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2
A
0.700
CausalMutation
CLINVAR
Founder mutation in dystonin-e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait.
25059916
2015
rs201045495
×
Entrez Id:
667
Gene Symbol:
DST
DST
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2
A
0.700
CausalMutation
CLINVAR
A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex.
20164846
2010
rs201871537
DST;DST-AS1
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI
T
0.700
GeneticVariation
CLINVAR
rs2894837
×
Entrez Id:
667
Gene Symbol:
DST
DST
Forced expiratory volume function
A
0.700
GeneticVariation
GWASCAT
New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.
30804560
2019
rs2894837
×
Entrez Id:
667
Gene Symbol:
DST
DST
peak expiratory flow (procedure)
A
0.700
GeneticVariation
GWASCAT
New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.
30804560
2019
rs398122819
×
Entrez Id:
667
Gene Symbol:
DST
DST
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI
C
0.700
CausalMutation
CLINVAR
rs398122943
×
Entrez Id:
667
Gene Symbol:
DST
DST
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2
A
0.700
CausalMutation
CLINVAR
rs41267675
×
Entrez Id:
667
Gene Symbol:
DST
DST
Red Blood Cell Count measurement
0.700
GeneticVariation
GWASCAT
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
30595370
2019
rs577972555
×
Entrez Id:
667
Gene Symbol:
DST
DST
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2
A
0.700
CausalMutation
CLINVAR
rs577972555
×
Entrez Id:
667
Gene Symbol:
DST
DST
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI
A
0.700
CausalMutation
CLINVAR
rs72881017
×
Entrez Id:
667
Gene Symbol:
DST
DST
Body Height
0.700
GeneticVariation
GWASCAT
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
30595370
2019
rs748899221
×
Entrez Id:
667
Gene Symbol:
DST
DST
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI
G
0.700
CausalMutation
CLINVAR
rs748899221
×
Entrez Id:
667
Gene Symbol:
DST
DST
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2
G
0.700
CausalMutation
CLINVAR
rs758637408
×
Entrez Id:
667
Gene Symbol:
DST
DST
Bullous pemphigoid
0.010
GeneticVariation
BEFREE
A total of four single nucleotide polymorphisms (SNPs) in the mtDNA, namely, m.16263T>C, m.16051A>G, and m.16162A>G in the D-loop region of the mtDNA, and m.11914G>A in the mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 gene (<i>MT-ND4</i>), were found to be significantly associated with BP based on the meta-analysis of our NGS data and the Sanger sequencing data (<i>p</i> = 0.0017, <i>p</i> = 0.0129, <i>p</i> = 0.0076, and <i>p</i> = 0.0132, respectively, Peto's test).
31824475
2019
rs759006806
×
Entrez Id:
667
Gene Symbol:
DST
DST
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI
CT
0.700
CausalMutation
CLINVAR
rs770035646
×
Entrez Id:
667
Gene Symbol:
DST
DST
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI
A
0.700
CausalMutation
CLINVAR
rs770035646
×
Entrez Id:
667
Gene Symbol:
DST
DST
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2
A
0.700
CausalMutation
CLINVAR
rs778397331
×
Entrez Id:
667
Gene Symbol:
DST
DST
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2
A
0.700
CausalMutation
CLINVAR
rs778397331
×
Entrez Id:
667
Gene Symbol:
DST
DST
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI
A
0.700
CausalMutation
CLINVAR