Skip to main content
. 2020 May 27;6(22):eaba5090. doi: 10.1126/sciadv.aba5090

Table 2. SNPs of microcephaly-related genes that are hypothesized to be associated with lexical tone perception.

Information for the alleles is obtained from the latest dbSNP database published by the National Center for Biotechnology Information (United States) for East Asians or based on our current sample.

Gene SNP Population Phenotype Allele
frequency
in dbSNP
database
Allele
frequency
in our
sample
N of cases for each genotype
in our sample
Total N
of
cases
References
MCPH1 rs1057090 Han Chinese Cranial
volume
T = 0.672;
C = 0.328
T = 0.698;
C = 0.302
TT = 210 TC = 172 CC = 42 424 (26)
MCPH1 rs11779303 European
(Norwegian)
Cortical
area
G = 0.966;
C = 0.034
G = 0.960;
C = 0.040
GG = 390 GC = 34 CC = 0 424 (25)
MCPH1 rs930557 European
(Norwegian)
Pitch
perception
C = 0.764;
G = 0.236
C = 0.754;
G = 0.246
CC = 240 CG = 159 GG = 25 424 (3, 23)
MCPH1 rs2816517 European
(Norwegian)
Brain
volume
C = 0.824;
A = 0.176
C = 0.800;
A = 0.200
CC = 277 CA = 124 AA = 23 424 (25)
ASPM rs41310927 European
(Norwegian)
Pitch
perception
T = 0.836;
C = 0.164
T = 0.838;
C = 0.162
TT = 299 TC = 113 CC = 12 424 (3, 23)
CDK5RAP2 rs1888893 European
(Norwegian)
Cortical
area
A = 0.855;
G = 0.145
A = 0.863;
G = 0.137
AA = 310 AG = 96 GG = 9 415 (25)
CDK5RAP2 rs4836819 European
(Norwegian)
Cortical
area
G = 0.818;
A = 0.182
G = 0.808;
A = 0.192
GG = 275 GA = 135 AA = 14 424 (25)
CDK5RAP2 rs7859743 European
(Norwegian)
Cortical
area
G = 0.815;
A = 0.185
G = 0.807;
A = 0.193
GG = 273 GA = 138 AA = 13 424 (25)
CDK5RAP2 rs914592 European
(Norwegian)
Cortical
area
A = 0.897;
G = 0.103
A = 0.871;
G = 0.129
AA = 323 AG = 93 GG = 8 424 (25)