Mutation Screening of MED27 in a Large Dystonia Cohort
Table 1
Allelic Fisher’s exact test for identified rare variants in MED27.
Genomic position
rsID
Annotation
hgvs_c
hgvs_p
Case ()
gnomAD as control ()
ChinaMAP as control ()
Control
(95% CI)
Control
(95% CI)
9 : 134736013
rs756095470
Missense
c.G740A
p.R247H
0.0007 ()
()
0.072
Inf (0.33-Inf)
()
0.061
Inf (0.39-Inf)
9 : 134814821
rs199522535
Missense
c.C520G
p.P174A
0.0015 ()
()
1.000
0.69 (0.08-2.64)
()
0.232
2.37 (0.26-10.48)
9 : 134949111
rs1833989963
Missense
c.C367G
p.P123A
0.0007 ()
()
0.065
Inf (0.37-Inf)
()
0.315
3.08 (0.07-27.55)
9 : 134949120
rs539278505
Missense
c.C358T
p.L120F
0.0007 ()
()
0.135
Inf (0.16-Inf)
()
0.061
Inf (0.39-Inf)
9 : 134955065
rs537761179
Missense
c.T167G
p.F56C
0.0007 ()
()
0.134
13.37 (0.17-1040.17)
()
0.270
3.85 (0.08-38.93)
Genomic position was based on GRCh37. Summary data of East Asian from gnomAD or mbiobank was utilized as controls; variants not recorded in public databases were considered as undetected in all individuals; MAF: minor allele frequency; variants with MAF <0.01 were considered rare; and values were obtained using Fisher’s exact test implemented in R 3.6.2 with default parameters.
