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Table 6 Known and candidate reproductivity-related SNP markers related to coagulation of blood

From: Candidate SNP markers of reproductive potential are predicted by a significant change in the affinity of TATA-binding protein for human gene promoters

Gene

dbSNP [6] rel. 147 or see [Ref]

5′ flank

wt

mut

3′ flank

KD, nM

Known diseases (SNP markers) or hypothetical disease (candidate SNP markers)

[Ref] or [this work]

wt

mut

Δ

Z

α

ρ

PROC

rs528817178

cctttcattc

c

t

gcttccacct

27

21

↑

5

10-6

A

(hypothetically) higher risk of tumor cell invasion

[this work], [214]

rs539608065

ctttcattcc

g

a

cttccacctg

27

22

↑

4

10-3

B

rs539731824

ttgtggttat

g

a

gattaactcg

10

6

↑

8

10-6

A

rs756414294

ggcgcggcac

c

t

agcaccagct

121

27

↑

25

10-6

A

rs777687270

ggcaccagca

c

t

cagctgcccg

121

59

↑

13

10-6

A

rs746382956

tgcccgcaga

g

a

gtgagcttcc

121

44

↑

19

10-6

A

rs542626506

cacacaggga

c

t

agccctttca

27

31

↓

3

10-2

C

(hypothetically) high risks of thrombosis, inflammation, and pregnancy loss

[this work], [215]

rs61731661

ccctttcatt

c

t

cgcttccacc

27

29

↓

5

0.05

D

F8

rs781855957

acggcggcag

c

t

ggaagaggga

75

49

↑

8

10-6

A

(hypothetically) higher risk of thrombosis

[this work] [216]

THBD

rs13306848

agggagggcc

g

a

ggcacttata

2

2

=

1

1

E

thrombosis (LUC: TF site damaged, not TATA)

[211]

(hypothetically) higher risks of placental failure and fetal loss

[this work], [217]

rs568801899

caatccgagt

g

a

tgcggcatca

45

70

↓

6

10-6

A

F3

rs563763767

ccctttatag

c

t

gcgcggggca

3

2

↑

6

10-6

A

myocardial infarction; thrombosis;

[212]

(hypothetically) higher risk of ovarian cancer

[this work], [218]

rs779755900

atctcgccgc

-

30bp

caactggtag

90

10

↑

43

10-6

A

rs749456955

gatctcgccg

c

a

caactggtag

90

75

↑

4

10-3

B

rs746842194

cgatctcgcc

-

17bp

gccaactggt

90

31

↑

15

10-6

A

rs754815577

ctcgatctcg

-

18bp

ccgccaactg

90

32

↑

17

10-6

A

rs768753666

ggaacccgct

c

g

gatctcgccg

90

117

↓

5

10-6

A

(hypothetically) lower risk of ovarian cancer

rs774688955

cgccacggaa

c

t

ccgctcgatc

90

101

↓

2

0.05

D

F7

-33a→c [213]

ccttggaggc

a

c

gagaactttg

53

62

↓

3

10-2

C

moderate bleeding

[213]

(hypothetically) lower risk of ovarian cancer

[this work], [218]

rs749691733

agaactttgc

c

t

cgtcagtccc

53

66

↓

4

10-3

B

rs367732974

aactttgccc

g

a

tcagtcccat

53

47

↑

2

0.05

D

(hypothetically) higher risk of ovarian cancer

rs549591993

gcccgtcagt

c

a

ccatggggaa

53

25

↑

13

10-6

A

rs777947114

agagaacttt

g

a

cccgtcagtc

53

19

↑

19

10-6

A

rs770113559

gtcacccttg

g

a

aggcagagaa

53

41

↑

5

10-6

A

rs754814507

cctcccccat

c

t

cctctgtcac

53

45

↑

3

10-3

B

F11

rs754739433

tctgggaatt

a

g

tttttagtaa

4

5

↓

2

0.05

D

(hypothetically) hereditary factor XI deficiency, high risk of spontaneous primary hemorrhage

[this work], [219]

rs780731761

ttatttttag

t

a

aaaggaaatt

4

7

↑

8

10-6

A

rs747652067

tatttttagt

a

g

aaggaaattt

4

7

↑

9

10-6

A

rs374761594

catttgtcta

c

t

tgaagcacac

13

10

↑

3

10-3

B

(hypothetically) higher risk of angioneurotic edema

[this work], [220]

rs759231858

acaccaacca

g

t

aataacgaag

13

4

↑

17

10-6

A

rs752308147

ccagaataac

g

a

aagctcgata

13

9

↑

6

10-6

A

F9

rs371045754

tggtacaact

a

c

atcgacctta

6

10

↓

5

10-6

A

(hypothetically) higher risk of hemophilia B

[this work], [221]

rs750827465

tttggtacaa

c

t

taatcgacct

6

4

↑

7

10-6

A

(hypothetically) higher risk of myocardial fibrosis

[this work], [222]

  1. See “Note” under Table 1
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BMC Genomics

ISSN: 1471-2164

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