Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893877
rs104893877
SNCA
0.030 GeneticVariation BEFREE Mice carrying an Ala53Thr human SNCA transgene driven by the mouse prion promoter show a mild movement disorder and only rarely develop severe pathology by 2 years of age. 15585343

2005
dbSNP: rs104893877
rs104893877
SNCA
0.030 GeneticVariation BEFREE Neuronal alpha-synucleinopathy with severe movement disorder in mice expressing A53T human alpha-synuclein. 12062037

2002
dbSNP: rs104893877
rs104893877
SNCA
0.030 GeneticVariation BEFREE Mice overexpressing the human A53T mutant alpha-Syn develop a severe movement disorder, paralysis, and synucleinopathy, but the mechanisms are not understood. 16399671

2006
dbSNP: rs104893878
rs104893878
SNCA ; SNCA-AS1
0.010 GeneticVariation BEFREE In <i>Drosophila melanogaster</i> disease model, human α-synuclein A30P overexpressing flies (A30P PD model) have been shown for levy body aggregation and movement disorders. 28824465

2017
dbSNP: rs104893915
rs104893915
SLC26A2
T 0.700 CausalMutation CLINVAR Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias. 8571951

1996
dbSNP: rs104893915
rs104893915
SLC26A2
T 0.700 CausalMutation CLINVAR Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation. 10465113

1999
dbSNP: rs104893915
rs104893915
SLC26A2
T 0.700 CausalMutation CLINVAR Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family. 21077202

2010
dbSNP: rs104893915
rs104893915
SLC26A2
T 0.700 CausalMutation CLINVAR Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance. 11241838

2001
dbSNP: rs104893915
rs104893915
SLC26A2
T 0.700 CausalMutation CLINVAR Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W. 12525546

2003
dbSNP: rs104893915
rs104893915
SLC26A2
T 0.700 CausalMutation CLINVAR Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells. 15294877

2004
dbSNP: rs104894094
rs104894094
CDKN2A
A 0.700 CausalMutation CLINVAR Prevalence of CDKN2A mutations in pancreatic cancer patients: implications for genetic counseling. 21150883

2011
dbSNP: rs104894094
rs104894094
CDKN2A
A 0.700 CausalMutation CLINVAR Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion of p16 (p16-Leiden). 10956390

2000
dbSNP: rs104894094
rs104894094
CDKN2A
A 0.700 CausalMutation CLINVAR Comprehensive analysis of CDKN2A (p16INK4A/p14ARF) and CDKN2B genes in 53 melanoma index cases considered to be at heightened risk of melanoma. 15937071

2006
dbSNP: rs104894094
rs104894094
CDKN2A
A 0.700 CausalMutation CLINVAR Novel and recurrent p14 mutations in Italian familial melanoma. 20132244

2010
dbSNP: rs104894094
rs104894094
CDKN2A
A 0.700 CausalMutation CLINVAR Lifetime risk of melanoma in CDKN2A mutation carriers in a population-based sample. 16234564

2005
dbSNP: rs104894094
rs104894094
CDKN2A
A 0.700 CausalMutation CLINVAR Increased risk of cancer other than melanoma in CDKN2A founder mutation (p16-Leiden)-positive melanoma families. 18981015

2008
dbSNP: rs104894094
rs104894094
CDKN2A
A 0.700 CausalMutation CLINVAR Geographical variation in the penetrance of CDKN2A mutations for melanoma. 12072543

2002
dbSNP: rs104894094
rs104894094
CDKN2A
A 0.700 CausalMutation CLINVAR Melanoma risk for CDKN2A mutation carriers who are relatives of population-based case carriers in Australia and the UK. 21325014

2011
dbSNP: rs104894635
rs104894635
SGSH
T 0.700 CausalMutation CLINVAR Sanfilippo syndrome: Overall review. 25851924

2015
dbSNP: rs104894635
rs104894635
SGSH
T 0.700 CausalMutation CLINVAR Cardiac disease as the presenting feature of mucopolysaccharidosis type IIIA: A case report. 27896117

2014
dbSNP: rs104894635
rs104894635
SGSH
T 0.700 CausalMutation CLINVAR Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A). 17938166

2007
dbSNP: rs104894635
rs104894635
SGSH
T 0.700 CausalMutation CLINVAR How close are we to therapies for Sanfilippo disease? 28921412

2018
dbSNP: rs104894635
rs104894635
SGSH
T 0.700 CausalMutation CLINVAR Late-Onset visceral presentation with cardiomyopathy and without neurological symptoms of adult Sanfilippo A syndrome. 12687673

2003
dbSNP: rs104894635
rs104894635
SGSH
T 0.700 CausalMutation CLINVAR Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome. 21671382

2011
dbSNP: rs104894635
rs104894635
SGSH
T 0.700 CausalMutation CLINVAR Behavioural phenotypes of the mucopolysaccharide disorders: a systematic literature review of cognitive, motor, social, linguistic and behavioural presentation in the MPS disorders. 23385295

2013