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. 2014 Apr 10;5:28. doi: 10.1186/2040-2392-5-28

Table 2.

Identified ANXA1 novel variants and SNPs absent in controls

Genomic position (hg18) Nucleotide change Amino acid change Location Transcript Novel/SNP Frequency cases Genotype In silico analysis PhastCons (primates)
74956445
G > A

5' of the gene
ENST00000257497
Novel1
0.002
Homo
TFBS abolished: VDR, CAR, PXR; NF-Y, C-myb, Crx; TFBS created: HNF6, Nkx6-2, OTX, CdxA
0.48
74956718
CTA > Del.CTA

Intron 1–2
ENST00000257497
Novel1
0.002
Het
-
0.23
74962617
C > T

5'UTR
ENST00000376911
rs27951151
0.002
Het
-
0.014
74964058
T > C

intron 3–4
ENST00000257497
rs101143501
0.002
Het
splice-site SNP (ENSEMBL), ISRE down (pfSNP)
0.81
74972178
G > A

intron 10–11
ENST00000257497
Novel1
0.005
Het

0.1
74972626
T > G

Intron 11–12
ENST00000257497
Novel1
0.002
Het

0.18
74973075
G > C

Intron 11–12
ENST00000257497
rs101196051
0.002
Het

0.11
74973545
T > C

Intron 11–12
ENST00000257497
Novel1
0.002
Het

NA
74975361
G > A

3' (intergenic)

Novel
0.002
Het

0.05
74975609
T > A

3' (intergenic)

Novel
0.002
Het

0.78
74975645
T > C

3' (intergenic)

rs149272288
0.001
Het

0.014
74975873
C > T

3' (intergenic)

rs9792653
0.051
Het

NA
74975882
C > T

3' (intergenic)

rs143327464
0.004
Het

NA
74976171
C > T

3' (intergenic)

rs113627562
0.004
Het

NA
74976222
A > G

3' (intergenic)

rs72737044
0.017
Het/Homo

0.18
74976536
C > T

3' (intergenic)

Novel
0.001
Het

0.03
74976574
T > C

3' (intergenic)

rs78798837
0.002
Het

NA
74977215
T > C

3' (intergenic)

Novel
0.001
Het

0.006
74977218
C > T

3' (intergenic)

rs146061737
0.001
Het

0.003
74977655
A > G

3' (intergenic)

rs114240435
0.002
Het

0
74977680
C > A

3' (intergenic)

rs114833327
0.001
Het

NA
74977840
G > A

3' (intergenic)

rs11143512
0.465
Het/Homo

NA
74977852
A > G

3' (intergenic)

Novel
0.001
Het

0.01
74977888
C > G

3' (intergenic)

rs17653109
0.089
Het/Homo

0.07
74977928
C > T

3' (intergenic)

rs75260654
0.023
Het

NA
74977965
C > G

3' (intergenic)

Novel
0.001
Het

0.08
74977981
C > T

3' (intergenic)

rs4443724
1
Homo

0.003
74977990
C > T

3' (intergenic)

rs116224215
0.007
Het

NA
74978003 C > T 3' (intergenic) rs4285546 0.04 Het/Homo 0.003

1Absent in a panel of 262 control individuals; Homo, homozygous; Het, heterozygous; TFBS, transcription factor binding site; NA, not available.