Table 2 SNPs identified in EVC and EVC2 genes in the index case of family 1 with the novel mutation
From: Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates
dbSNPs | Gene | Reference Number | Minor Allele Frequencya | Average Heterozygosityb |
|---|---|---|---|---|
NM_153717.2:c.769 C>T | EVC | rs6446393 | C:0.04 | -- |
NM_153717.2:c.772 T>C | EVC | rs6414624 | T:0.13 | 0.351 +/- 0.229 |
NM_153717.2:c.939+4T>C | EVC | rs2286343 | T:0.43 | 0.480 +/- 0.098 |
NM_153717.2:c.969 T>C | EVC | rs4688963 | T:0.47 | 0.500 +/- 0.014 |
NM_153717.2:c.1026 G>C | EVC | rs4688962 | G:0.37 | 0.461 +/- 0.135 |
NM_153717.2:c.1854C>T | EVC | rs11737221 | -- | -- |
NM_153717.2:c.2305-8A>T | EVC | rs1031919 | T:0.48 | 0.441 +/- 0.162 |
NM_153717.2:c.2894+18G>A | EVC | rs2279250 | A:0.43 | 0.499 +/- 0.020 |
NM_153717.2:c.*14G>A | EVC | rs2291151 | A:0.01 | 0.496 +/- 0.045 |
NM_147127.3:c. 2151C>T* | EVC2 | unknown | -- | -- |
NM_147127.3:c.3507C>T | EVC2 | rs12511039 | C:0.50 | 0.482 +/- 0.093 |