Supplementary Table 3. Variants identified by sequencing the USF1 gene in the 31 FCHL
probands of the original linkage study3. This supplementary table will be presented at our web
site.
Location
rs number
-2167
-2022
-802
Exon 1
New
New
New
rs2516837
Rare allele
frequencies
(in 31 samples)
0.02
0.05
0.03
0.44
Intron 1
= usf1s9
Intron 1
= usf1s8
Intron 1
rs1556259
0.19
rs2516838
0.29
rs1556260
0.16
Intron 1
rs2774273
0.44
Intron 1 / 1125 bp
New
0.16
Intron 1 / 1416 bp
New
0.16
Exon 2
= usf1s7
Intron 2
= usf1s6
Intron 3
rs2516839
0.44
rs2073653
0.11
rs2073655
0.23
Intron 5
rs2774276
0.27
Intron 6
rs2073656
0.23
Intron 6
= usf1s5
Intron 6 / 3411 bp
Intron 6 / 3519 bp
rs2516840
0.32
New
New
0.05
0.05
Information on LD
(in 31 samples)
In full LD with
rs2516839 and
rs2774273
Specifics
T/C
A/C
C/G
Not translated
region
In full LD with SNPs in
1125 bp and 1416 bp;
30/31 samples in LD
with rs1556259
In full LD with
rs2516839 and
rs2516837
In full LD with SNP
C/T
1416 bp;
30/31 samples in LD
with rs1556259
In full LD with the SNP A/G
in 1125 bp;
30/31 samples in LD
with rs1556259
Not translated
region
In full LD with
rs2073658
29/31 in LD with
rs2516840
In full LD with
rs2073658
C/T
C/T
Intron 7
rs2073657
0.47
In AluSx
= usf1s4
Intron 7
rs2516841
0.31
In AluSx
= usf1s3
Intron 7
rs2073658
0.23
= usf1s2
Intron 9 / 4445 bp New
0.03
A/G
Exon 11
rs3737787
0.24
Not translated
= usf1s1
region
Underlined variants were genotyped in the FCHL families. For these SNPs, the numbers usf1s1s9, used in the text and Tables 1-3, are also shown; New indicates that the SNP was not found in
the SNP databases. The numbering of the new SNPs is based on the genomic sequence of USF1
at the UCSC Genome Browser, July 2003 (refGene_NM_007122).