Table A
Gene
Disease
SNPs
Heterozygosity
ABCD1 X-Linked Adrenoleukodystrophy
3
0.10 - 0.44, 0.10 - 0.44, 0.08 - 0.36
APC
Adenomatous Polyposis Coli
5
0.04 - 0.30, 0.13 - 0.42, 0.04 - 0.46
CFTR
Cystic Fibrosis
3
0.15 - 0.39, 0.04 - 0.44, 0.15 - 0.34
CHM
Choroideremia
0
CLCN1 Thomsen Disease
0
DM
Myotonic Dystrophy
1
0.04 - 0.41
DMD
Duchenne Muscular Dystrophy
4
0.48 - 0.49, 0.31 - 0.46, 0.15 - 0.44
FMR1
Fragile X Syndrome
2
0.10 - 0.28, 0.10 - 0.28
GK
Glycerol Kinase Deficiency
14
0.10 - 0.48, 0.34 - 0.48, 0.18 - 0.50
GLRA2 Hyperekplexia
0
HD
Huntington's Disease
0
KRT9
Epidermolytic Palmoplantar Keratoderma
0
MLH1
Hereditary Non-polyposis Colon Cancer
0
ATP7A Menkes Syndrome
9
MSH2
Hereditary Non-polyposis Colon Cancer
0
0.34 - 0.48, 0.34 - 0.48, 0.34 - 0.48
NDP
Norrie Disease
1
0.11 - 0.47
NF1
Neurofibromatosis, Type 1
3
0.15 - 0.49, 0.10 - 0.44, 0.15 - 0.49
NF2
Neurofibromatosis, Type 2
1
0.23 - 0.50
OCRL
Lowe Syndrome
1
0.21 - 0.49
PAX3
Waardenburg Syndrome
2
0.04 - 0.42, 0.04 - 0.42
PAX6
Aniridia
0
PKD1
Polycystic Kidney Disease
7
0.13 - 0.50, 0.18 - 0.50, 0.18 - 0.50
RB1
Retinoblastoma
3
0.10 - 0.44, 0.10 - 0.44, 0.08 - 0.38
RET
Multiple Endocrine Neoplasia 2A
0
SOD1
Amyotrophic Lateral Sclerosis
2
SRY
Gonadal Dysgenesis
0
TSC1
Tuberous Sclerosis
2
0.08 - 0.47, 0.26 - 0.50
VHL
Von Hippel-Lindau Disease
0.10 - 0.18, 0.04 - 0.13
15
0.13 - 0.42, 0.10 - 0.44, 0.11 - 0.47
ATP7B Wilson Disease
3
0.40 - 0.50, 0.27 - 0.50, 0.15 - 0.49
WT1
1
0.08 - 0.39
Wilms Tumor
Table A Detection of SNPs in a sample of positionally cloned genes. SNPs with
lod > 3 in each gene were counted. The estimated heterozygosity range for each SNP is
shown (lower bound: bottom of the 95% rank confidence interval; upper bound: the
expectation value). For genes with more than three SNPs, heterozygosity ranges are
shown for only the SNPs with the top three lod scores.
Table B
codon
polymorphism
pos.
AA
AA
protein
lod
disease
f (%)
pos
location type
association
3 CAC
HIS
CAT
HIS
88.31 11
2
surface
silent
2 GAG
GLU
GTG
VAL
239.91 2
6
 interface
non-conserved
ARG
AGT
SER
13.13 4
30
 interface
non-conserved
3 GAC
ASP
GAA
GLU
3.04
1
79
surface
conservative
1 CTC
LEU
TTC
PHE
3.34
1
105
 interface
conservative
VAL
GCC
ALA
23.44 1
134
core
conservative
sickle cell
3 AGG
hemolytic anemia
erythrocytosis
3 GTG
Table B SNPs detected in human hemoglobin  chain. Six SNPs (lod>3) were
detected in the coding region of -hemoglobin. Two cause non-conservative amino acid
substitutions (as defined by a negative score in the BLOSUM60 matrix), and three are
known to be associated with human disease (as reported by Online Mendelian Inheritance
in Man). The lower bound of the 95% rank confidence interval for the allele frequency is
given as f(%).