Table 2 Haplotype frequencies from selected TAG SNPs for European and African populations; and for individuals of this cohort.

From: Identification of a founder effect involving n.197C>T variant in RMRP gene associated to cartilage-hair hypoplasia syndrome in Brazilian patients

rs10972552

rs7021463

rs1339374

rs1361338

Frequency in Europeans*

Frequency in Africans*

Number of observations in the cohort

Frequency in cohort

Total

With n.197C>T

Without n.197C>T

T

C

G

A

0.325

0.148

30

17

13

0.556

T

C

G

C

0.001

0.016

1

0

1

0.018

T

G

G

C

0.129

0.350

9

0

9

0.167

T

G

G

A

0.002

0.000

0

0

0

0.000

C

C

A

A

0.177

0.013

4

0

4

0.074

C

C

G

C

0.356

0.075

8

1

7

0.149

C

C

G

A

0.003

0.004

1

0

1

0.018

C

C

A

C

0.005

0.393

1

0

1

0.018

C

G

G

C

0.002

0.001

0

0

0

0.000

T

C

A

C

0.000

0.001

0

0

0

0.000

   

Total

1.000

1.000

54

18

36

1.000

  1. In gray are marked the most frequent haplotypes in the European and African population. *data from 1000 Genomes database (N = 504 EUR; N = 503 AFR).
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