SNP SNP ID1 (dbSNP ID) Location Amino acid change Series (N=) hom het rare hom MAF2 p-value3
1 c.-67-54C/G (rs143259350) Promoter - Cases (96) 93 3 0 0.016 0
2 c.112C/T (rs55849827) Exon 2 Leu38Phe Cases (96) 95 1 0   -
3 c.216+194T/C (rs56246409) Intron 3 - Cases (96) 70 24 2 0.146 -
4 c.217-141G/A (rs17049422) Intron 3 - Cases (96) 91 5 0 0.026 -
5 c.217-11T/C (rs79588315) Intron 3 - Cases (96) Controls (94) 69 72 25 22 2 0 0.151 0.115 0.33
6 c.374+34delT (rs200325071) Intron 5 - Cases (96) 87 9 0 0.047 -
7 c.375-120insATTA (NA) Intron 5 - Cases (96) 92 4 0 0.021 -
8 c.375-85A/G (rs62140045) Intron 5 - Cases (96) 92 4 0 0.021 -
9 c.375-49C/G (rs1404459) Intron 5 - Cases (96) 80 13 3 0.099 -
10 c.706+59delTAA (rs148383677) Intron 8 - Cases (96) 46 43 7 0.297 -
11 c.706+70A/G (rs848288) Intron 8 - Cases (96) 46 43 7 0.297 -
12 c.707-27A/C (rs12624152) Intron 8 - Cases (96) 82 12 2 0.083 -
13 c.790+22C/T (rs10445896) Intron 9 - Cases (96) 69 25 2 0.151 -
14 c.790+31A/G (rs10445895) Intron 9 - Cases (96) 68 26 2 0.156 -
15 c.918+32C/G (rs149412402) Intron 11 - Cases (95) 93 2 0 0.01 -
16 c.996C/T (rs848291) Exon 12 Ser332Ser Cases (96) 35 46 15 0.396 -
17 c.1092T/C (rs11539575) Exon 13 Cys364Cys Cases (96) 90 6 0 0.031 -
18 c.1108-65G/A (rs3732136) Intron 13 - Cases (91) 43 38 10 0.302 -
Exonic variants are displayed in bold characters
1 SNP ID are indicated according to the nomenclature guidelines of the Human Genome Variation Society (RefSeq NM_001114636.1). The first base from the ATG
codon is counted as +1. dbSNP ID is indicated according to build 137, NA indicating a SNP not found in the database.
2 MAF: Minor allele frequency.
3 p-value of significance between MAF found in cases and controls
Table 1: Sequence variations in FANCL gene and genotype frequencies in familial breast cancer cases and controls (rs79588315).