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Table 2 Distribution of 137 SCARB1 genotyped variants

From: Genetic contribution of SCARB1 variants to lipid traits in African Blacks: a candidate gene association study

 

Total

MAF ≥5 %

MAF between 1-5 %

MAF ≤1 %

N (%)

n (%)

n (%)

n (%)

Total variants

137 (100.00)

94 (68.61)

20 (14.60)

23 (16.79)

By known/novela

    

 Known

128 (93.43)

94 (68.61)

20 (14.60)

14 (10.22)

  Single-nucleotide variation

126

92

20

14

  Short indels

2

2

  

 Novel

9 (6.57)

  

9 (6.57)

  Single-nucleotide variation

8

  

8

  Short indels

1

  

1

By location

    

 Exons-codingc

7

4c

1

2

 Exons-UTRs

4

1

1

2

 Introns

118

85

16

17

 Introns-splice sitesb

2

1

 

1

 3′ flanking

6

3

2

1

By amino acid change

    

 Non-synonymousc

2

1c

 

1

 Synonymous

5

3

1

1

  1. Indels insertion and deletion variations, MAF minor allele frequency, UTR untranslated region
  2. The list of 137 genotyped variants is shown in Additional file 9: Table S6
  3. The list of 10 novel variants is shown in Additional file 4: Table S4
  4. adbSNP build 139: GRCh37.p10. All 10 novel variants identified in this study have been submitted to dbSNP (batch ID: SCARB1_AB): http://0-www-ncbi-nlm-nih-gov.brum.beds.ac.uk/SNP/snp_viewTable.cgi?handle=KAMBOH
  5. bSplice site, defined as ± 20 bp from the start or end of an exon
  6. cIncluding rs701103 (p.Gly499Arg; MAF = 0.2451) that is located in exon 13-3′ UTR and translated only in isoform 2