Table 1

Details of the SNPs selected for inclusion in the CACNA1S haplotype analysis

NCBI reference

Locationa

Chromosomal positionb

Hetc

ABI assay number

SNP number


rs1546416

Intron42-43

199276179

0.468

C___2826986_1_

1


rs12029212

Intron32-33

199288242

0.303

C__25474094_10

2


rs7415038

p.Phe801

199305310

0.504

C___3135170_10

3


rs10920105

Intron15-16

199309241

0.468

C__25652884_10

4


rs9427714

p.Gly505

199313734

0.495

C__25652932_10

5


rs2296383

p.Ile199

199327488

0.528

C__15752541_10

6


rs1536129

Intron2-3

199335814

0.439

C___1942693_10

7


rs1325309

Intron1-2

199346081

0.414

C___1942703_20

8


aLocation of each SNP according to reference sequence

bChromosomal position according to NCBI reference sequence for chromosome 1

cHeterozygosity calculated from our data for the 480 population control samples

Carpenter et al. BMC Medical Genetics 2009 10:104   doi:10.1186/1471-2350-10-104

Open Data