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Table 4 Details of SNP markers used for the haplotype analysis

From: Two novel missense substitutions in the VSX1 gene: clinical and genetic analysis of families with Keratoconus from India

db SNP ID

Physical position

VSX1 transcript ID

cDNA change

Protein change

Allele frequencya

Population frequencya

rs12480307

chr20: 25078910

NM_014588

c.546A > G

p.A182A

A : 0.748

A : 75 %

G : 0.252

G : 25 %

rs56157240

chr20: 25078745

NM_014588

c.627 + 84 T > A

-

T: 0.252

T: 25 %

A: 0.748

A: 75 %

rs6138482

chr20: 25078806

NM_014588

c.627 + 23G > A

-

G: 0.735

G: 74 %

A: 0.265

A: 26 %

(IVS3-24C)

chr20: 25078976

NM_014588

c.504-24C > T

-

C:0.999

Not available

T:0.001

  1. aAllele and population frequencies were determined by 1000 Genomes Project Phase 1, HapMap, and ESP for human