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Table 5 Missense variants observed between normal and umbilical-hernia affected pigs with SIFT score calculated in the dbSNP database (Ensembl)

From: A joint analysis using exome and transcriptome data identifies candidate polymorphisms and genes involved with umbilical hernia in pigs

Method

Existing variation

Location

Gene Symbol

Exon Number

SIFT

Exomic

rs335136145

12:38026003–38,026,003

MYO19

21/26

tolerated (0.36)

rs335136145

12:38026003–38,026,003

MYO19

21/27

tolerated (0.36)

rs335136145

12:38026003–38,026,003

MYO19

18/23

tolerated (0.32)

new

12:55146905–55,146,905

MYH8

23/41

tolerated (0.53)

new

12:55146905–55,146,905

MYH8

22/40

tolerated (0.52)

new

12:55146905–55,146,905

MYH8

24/42

tolerated (0.49)

new

12:55267170–55,267,170

MHY2

20/40

tolerated (1)

new

12:55267170–55,267,170

MHY2

19/39

tolerated (1)

new

12:55267170–55,267,170

MHY2

21/41

tolerated (1)

rs337918521

3:16960969–16,960,969

ZNF713

6/6

deleterious (0.02)

rs323115420

3:16964045–16,964,045

ZNF713

5/6

tolerated (0.65)

new

3:17033960–17,033,960

ENSSSCG00000036685

1/1

tolerated low confidence (0.07)

new

3:17034293–17,034,293

ENSSSCG00000036685

1/1

tolerated low confidence (1)

rs327289001

3:17254444–17,254,444

ITGAM

3/30

deleterious (0.01)

rs327289001

3:17254444–17,254,444

ITGAM

2/30

deleterious (0.01)

rs327289001

3:17254444–17,254,444

ITGAM

3/31

deleterious (0.01)

rs327289001

3:17254444–17,254,444

ITGAM

2/31

deleterious (0.01)

rs327289001

3:17254444–17,254,444

ITGAM

3/32

deleterious (0.01)

rs337670844

3:17399477–17,399,477

ZNF646

3/4

tolerated (0.11)

rs337670844

3:17399477–17,399,477

ZNF646

2/4

tolerated (0.1)

rs337670844

3:17399477–17,399,477

ZNF646

1/2

tolerated (0.08)

rs330957838

3:17468302–17,468,302

SETD1A

16/21

tolerated low confidence (0.34)

rs789266896

3:17628688–17,628,688

RNF40

15/22

tolerated (0.62)

rs789266896

3:17628688–17,628,688

RNF40

14/21

tolerated (0.62)

rs789266896

3:17628688–17,628,688

RNF40

13/20

tolerated (0.6)

rs325089032

6:81571496–81,571,496

ELOA

2/11

tolerated (0.1)

rs325089032

6:81571496–81,571,496

ELOA

2/12

tolerated (0.1)

rs696812713

8:6157581–6,157,581

OTOP1

7/8

tolerated (0.58)

rs712855168

8:6157582–6,157,582

OTOP1

7/8

tolerated (0.53)

Transcriptomic

rs325089032

6:81571496–81,571,496

ELOA

2/11

tolerated (0.1)

rs325089032

6:81571496–81,571,496

ELOA

2/12

tolerated (0.1)

rs327289001

3:17254444–17,254,444

ITGAM

3/30

deleterious (0.01)

rs327289001

3:17254444–17,254,444

ITGAM

2/30

deleterious (0.01)

rs327289001

3:17254444–17,254,444

ITGAM

3/31

deleterious (0.01)

rs327289001

3:17254444–17,254,444

ITGAM

2/31

deleterious (0.01)

rs327289001

3:17254444–17,254,444

ITGAM

3/32

deleterious (0.01)

rs789266896

3:17628688–17,628,688

RNF40

15/22

tolerated (0.62)

rs789266896

3:17628688–17,628,688

RNF40

14/21

tolerated (0.62)

rs789266896

3:17628688–17,628,688

RNF40

13/20

tolerated (0.6)

rs330957838

3:17468302–17,468,302

SETD1A

16/21

tolerated low confidence (0.34)

rs337670844

3:17399477–17,399,477

ZNF646

3/4

tolerated (0.11)

rs337670844

3:17399477–17,399,477

ZNF646

2/4

tolerated (0.1)

rs337670844

3:17399477–17,399,477

ZNF646

1/2

tolerated (0.08)

rs323115420

3:16964045–16,964,045

ZNF713

5/6

tolerated (0.65)