Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11655081
rs11655081
ARSG
0.710 GeneticVariation BEFREE Genome-wide significance with MD was observed for an intronic variant in the arylsulfatase G (ARSG) gene (rs11655081; P = 3.95 × 10(-9) ; odds ratio [OR], 4.33; 95% confidence interval [CI], 2.66-7.05). rs11655081 was also associated with WD (P = 2.78 × 10(-2) ) but not with any other focal or segmental dystonia. 24375517

2014
dbSNP: rs11655081
rs11655081
ARSG
0.710 GeneticVariation GWASDB Genome-wide significance with MD was observed for an intronic variant in the arylsulfatase G (ARSG) gene (rs11655081; P = 3.95 × 10(-9) ; odds ratio [OR], 4.33; 95% confidence interval [CI], 2.66-7.05). rs11655081 was also associated with WD (P = 2.78 × 10(-2) ) but not with any other focal or segmental dystonia. 24375517

2014
dbSNP: rs143888944
rs143888944
RAB12
0.010 GeneticVariation BEFREE The detected variants among index patients comprised p.Ile196Val (<i>n</i> = 6); p.Ala174Thr (<i>n</i> = 3); p.Gly13Asp; p.Ala148Thr; and p.Arg181Gln in patients with MD; cervical dystonia; or WD. 29057844

2017
dbSNP: rs146556082
rs146556082
TFRC
0.010 GeneticVariation BEFREE The detected variants among index patients comprised p.Ile196Val (<i>n</i> = 6); p.Ala174Thr (<i>n</i> = 3); p.Gly13Asp; p.Ala148Thr; and p.Arg181Gln in patients with MD; cervical dystonia; or WD. 29057844

2017
dbSNP: rs149427020
rs149427020
RAB12
0.010 GeneticVariation BEFREE The detected variants among index patients comprised p.Ile196Val (<i>n</i> = 6); p.Ala174Thr (<i>n</i> = 3); p.Gly13Asp; p.Ala148Thr; and p.Arg181Gln in patients with MD; cervical dystonia; or WD. 29057844

2017
dbSNP: rs371288995
rs371288995
RAB12
0.010 GeneticVariation BEFREE The detected variants among index patients comprised p.Ile196Val (<i>n</i> = 6); p.Ala174Thr (<i>n</i> = 3); p.Gly13Asp; p.Ala148Thr; and p.Arg181Gln in patients with MD; cervical dystonia; or WD. 29057844

2017
dbSNP: rs533268185
rs533268185
TFRC
0.010 GeneticVariation BEFREE The detected variants among index patients comprised p.Ile196Val (<i>n</i> = 6); p.Ala174Thr (<i>n</i> = 3); p.Gly13Asp; p.Ala148Thr; and p.Arg181Gln in patients with MD; cervical dystonia; or WD. 29057844

2017
dbSNP: rs769617030
rs769617030
AGFG1
0.010 GeneticVariation BEFREE The detected variants among index patients comprised p.Ile196Val (<i>n</i> = 6); p.Ala174Thr (<i>n</i> = 3); p.Gly13Asp; p.Ala148Thr; and p.Arg181Gln in patients with MD; cervical dystonia; or WD. 29057844

2017
dbSNP: rs770304347
rs770304347
TFRC
0.010 GeneticVariation BEFREE The detected variants among index patients comprised p.Ile196Val (<i>n</i> = 6); p.Ala174Thr (<i>n</i> = 3); p.Gly13Asp; p.Ala148Thr; and p.Arg181Gln in patients with MD; cervical dystonia; or WD. 29057844

2017