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Table 2 Overview of the SNPs studied

From: Genetic analysis of polymorphisms in the kalirin gene for association with age-at-onset in European Huntington disease patients

SNP ID

Chromosome position chromosome 3

Allelesa (1/2)

Gene location

SNP type

Protein level

Controls (CEPH)

HD patients

      

Allele frequency

Genotype frequency

Allele frequency

      

1

2

1-1

1-2

2-2

1

2

rs10934657

123812836

C / T

5′-UTR

Non-coding

 

0.8

0.2

487

174

19

0.844

0.156

rs111472457

124048782

G / T

exon 8

non-synonymous

D451E

1

0

-

-

-

-

-

rs35057827

124053260

G / A

exon 9

non-synonymous

Q520R

1

0

-

-

-

-

-

rs61746078

124066099

G / C

exon 10

non-synonymous

Q585E

1

0

-

-

-

-

-

rs13074913

124113985

T / G

exon 11

non-synonymous

G654W

1

0

-

-

-

-

-

rs61745397

124117557

T / A

exon 13

non-synonymous

T727S

1

0

-

-

-

-

-

rs112304715

124132486

A / G

exon 14

non-synonymous

R837Q

1

0

-

-

-

-

-

rs77832285

124165034

G / T

exon 20

non-synonymous

X1112E

1

0

-

-

-

-

-

rs2289838

124181433

G / T

exon 25

non-synonymous

D1326E

1

0

-

-

-

-

-

rs74389479

124196161

C / A

exon 27

non-synonymous

N1389H

1

0

-

-

-

-

-

rs1062749

124211666

G / A

exon 32

non-synonymous

E1588G

1

0

-

-

-

-

-

  1. Chromosome positions were obtained from NCBI single nucleotide polymorphism (SNP) browser (http://0-www-ncbi-nlm-nih-gov.brum.beds.ac.uk/SNP/).
  2. Reference sequence for coding SNPs: NM_003947.4.
  3. The studied genotype distributions were consistent with Hardy-Weinberg distribution P=0.4716.
  4. a Alleles are described as 1 (wild type allele) or 2 (variant allele).