C18.2

Case	Control
585	459620

Location	SNP	Gene	Ref>Alt	Alt in Case	Alt in Control	Chi-square	P-value	Odds Ratio
chr7:154764460	rs117737221	PAXIP1	C>T	31	9894	27.88	1.289e-07	2.531
chr3:77729383	rs73116558	-	T>C	42	16602	21.95	2.803e-06	2.056
chr11:94545317	rs61893497	AMOTL1	C>T	69	31823	21.75	3.099e-06	1.77
chr12:16320109	rs73062537	-	T>G	31	10969	21.75	3.113e-06	2.284
chr1:37368011	rs71640703	GRIK3	A>G	48	19843	21.71	3.166e-06	1.962
chr17:31124743	rs35690182	MYO1D	T>C	239	144065	21.66	3.249e-06	1.397
chr6:131708393	rs2146825	-	C>T	105	54085	21.61	3.346e-06	1.601
chr18:74402320	rs35826875	-	G>A	187	108189	21.4	3.72e-06	1.442
chr10:5965695	rs41290321	FBH1	C>T	36	13860	20.14	7.186e-06	2.102
chr8:121194900	rs7005932	COL14A1	G>A	179	192328	20.12	7.287e-06	0.6958
chr7:93024221	rs4470942	-	A>G	20	40994	19.98	7.843e-06	0.3793
chr10:80671082	rs72814034	-	C>T	66	30923	19.85	8.392e-06	1.746
chr14:77172642	rs76043592	-	T>C	52	23089	19.41	1.055e-05	1.851
chr3:4776094	rs6792995	ITPR1	C>T	253	156333	19.38	1.074e-05	1.363
chr10:132825861	rs34983436	-	A>C	50	21711	19.35	1.088e-05	1.87
chr12:11708953	rs12810992	-	C>A	636	446968	19.21	1.172e-05	1.285
chr1:54163427	rs115739739	GLIS1	C>T	103	54233	18.96	1.332e-05	1.561
chr17:78877789	rs4969300	RPTOR	G>A	196	116907	18.72	1.517e-05	1.399
chr4:104847577	rs77637830	-	T>C	51	22482	18.71	1.523e-05	1.84
chr6:165040373	rs11968290	-	G>A	209	216496	18.69	1.536e-05	0.7208
chr13:101243161	rs12873940	-	C>T	23	5954	31.45	2.049e-08	3.075
chr13:101240553	rs71439669	GGACT	T>G	23	5960	31.37	2.133e-08	3.071
chr7:154764460	rs117737221	PAXIP1	C>T	29	9734	22.33	2.298e-06	2.37
chr18:74402320	rs35826875	-	G>A	182	102777	22.21	2.447e-06	1.46
chr6:131708393	rs2146825	-	C>T	105	53331	21.67	3.231e-06	1.604
chr12:16320109	rs73062537	-	T>G	31	10871	21.47	3.59e-06	2.274
chr10:5965695	rs41290321	FBH1	C>T	36	13494	20.89	4.853e-06	2.131
chr12:11708953	rs12810992	-	C>A	598	410403	20.55	5.811e-06	1.304
chr1:37368011	rs71640703	GRIK3	A>G	47	19398	20.45	6.129e-06	1.938
chr1:222192964	rs17442323	-	A>C	287	177603	20.42	6.224e-06	1.358
chr3:77729383	rs73116558	-	T>C	41	16280	20.3	6.635e-06	2.019
chr23:96145659	rs138000853	DIAPH2	C>A	57	26145	19.95	7.97e-06	1.828
chr2:147886582	rs72857597	-	A>G	76	36399	19.75	8.824e-06	1.685
chr5:64574685	rs10077096	ADAMTS6	G>A	431	283421	19.74	8.886e-06	1.308
chr10:132825861	rs34983436	-	A>C	50	21392	19.42	1.052e-05	1.873
chr11:118186305	rs2231449	CD3E	C>A	55	24339	19.34	1.093e-05	1.821
chr6:107376799	rs1762703	-	C>T	564	382668	19.25	1.148e-05	1.292
chr17:78877789	rs4969300	RPTOR	G>A	184	107073	18.85	1.411e-05	1.415
chr5:24042926	rs72745722	-	T>C	57	25511	18.67	1.557e-05	1.785
chr6:108426391	rs13215628	OSTM1	C>T	304	191379	18.66	1.566e-05	1.333

Location

SNP

Gene

Ref>Alt

Alt in Case

Alt in Control

Chi-square

P-value

Odds Ratio

chr7:154764460

rs117737221

PAXIP1

C>T

31

9894

27.88

1.289e-07

2.531

chr3:77729383

rs73116558

-

T>C

42

16602

21.95

2.803e-06

2.056

chr11:94545317

rs61893497

AMOTL1

C>T

69

31823

21.75

3.099e-06

1.77

chr12:16320109

rs73062537

-

T>G

31

10969

21.75

3.113e-06

2.284

chr1:37368011

rs71640703

GRIK3

A>G

48

19843

21.71

3.166e-06

1.962

chr17:31124743

rs35690182

MYO1D

T>C

239

144065

21.66

3.249e-06

1.397

chr6:131708393

rs2146825

-

C>T

105

54085

21.61

3.346e-06

1.601

chr18:74402320

rs35826875

-

G>A

187

108189

21.4

3.72e-06

1.442

chr10:5965695

rs41290321

FBH1

C>T

36

13860

20.14

7.186e-06

2.102

chr8:121194900

rs7005932

COL14A1

G>A

179

192328

20.12

7.287e-06

0.6958

chr7:93024221

rs4470942

-

A>G

20

40994

19.98

7.843e-06

0.3793

chr10:80671082

rs72814034

-

C>T

66

30923

19.85

8.392e-06

1.746

chr14:77172642

rs76043592

-

T>C

52

23089

19.41

1.055e-05

1.851

chr3:4776094

rs6792995

ITPR1

C>T

253

156333

19.38

1.074e-05

1.363

chr10:132825861

rs34983436

-

A>C

50

21711

19.35

1.088e-05

1.87

chr12:11708953

rs12810992

-

C>A

636

446968

19.21

1.172e-05

1.285

chr1:54163427

rs115739739

GLIS1

C>T

103

54233

18.96

1.332e-05

1.561

chr17:78877789

rs4969300

RPTOR

G>A

196

116907

18.72

1.517e-05

1.399

chr4:104847577

rs77637830

-

T>C

51

22482

18.71

1.523e-05

1.84

chr6:165040373

rs11968290

-

G>A

209

216496

18.69

1.536e-05

0.7208

chr13:101243161

rs12873940

-

C>T

23

5954

31.45

2.049e-08

3.075

chr13:101240553

rs71439669

GGACT

T>G

23

5960

31.37

2.133e-08

3.071

chr7:154764460

rs117737221

PAXIP1

C>T

29

9734

22.33

2.298e-06

2.37

chr18:74402320

rs35826875

-

G>A

182

102777

22.21

2.447e-06

1.46

chr6:131708393

rs2146825

-

C>T

105

53331

21.67

3.231e-06

1.604

chr12:16320109

rs73062537

-

T>G

31

10871

21.47

3.59e-06

2.274

chr10:5965695

rs41290321

FBH1

C>T

36

13494

20.89

4.853e-06

2.131

chr12:11708953

rs12810992

-

C>A

598

410403

20.55

5.811e-06

1.304

chr1:37368011

rs71640703

GRIK3

A>G

47

19398

20.45

6.129e-06

1.938

chr1:222192964

rs17442323

-

A>C

287

177603

20.42

6.224e-06

1.358

chr3:77729383

rs73116558

-

T>C

41

16280

20.3

6.635e-06

2.019

chr23:96145659

rs138000853

DIAPH2

C>A

57

26145

19.95

7.97e-06

1.828

chr2:147886582

rs72857597

-

A>G

76

36399

19.75

8.824e-06

1.685

chr5:64574685

rs10077096

ADAMTS6

G>A

431

283421

19.74

8.886e-06

1.308

chr10:132825861

rs34983436

-

A>C

50

21392

19.42

1.052e-05

1.873

chr11:118186305

rs2231449

CD3E

C>A

55

24339

19.34

1.093e-05

1.821

chr6:107376799

rs1762703

-

C>T

564

382668

19.25

1.148e-05

1.292

chr17:78877789

rs4969300

RPTOR

G>A

184

107073

18.85

1.411e-05

1.415

chr5:24042926

rs72745722

-

T>C

57

25511

18.67

1.557e-05

1.785

chr6:108426391

rs13215628

OSTM1

C>T

304

191379

18.66

1.566e-05

1.333

ID	Name	Top Correlation
HP: 0000118	Phenotypic abnormality	0/20
HP: 0000152	Abnormality of head or neck	0/20
HP: 0000234	Abnormality of the head	0/20
HP: 0000271	Abnormality of the face	0/20
HP: 0000315	Abnormality of the orbital region	0/20
HP: 0000502	Abnormal conjunctiva morphology	0/20
HP: 0002012	Abnormality of the abdominal organs	0/20
HP: 0002242	Abnormal intestine morphology	0/20
HP: 0002250	Abnormal large intestine morphology	0/20
HP: 0002566	Intestinal malrotation	0/20
HP: 0002589	Gastrointestinal atresia	0/20
HP: 0002664	Neoplasm	0/20
HP: 0005211	Midgut malrotation	0/20
HP: 0005245	Intestinal hypoplasia	0/20
HP: 0007378	Neoplasm of the gastrointestinal tract	0/20
HP: 0010448	Colonic atresia	0/20
HP: 0011024	Abnormality of the gastrointestinal tract	0/20
HP: 0011100	Intestinal atresia	0/20
HP: 0011793	Neoplasm by anatomical site	0/20
HP: 0012550	Colonic varices	0/20
HP: 0012718	Morphological abnormality of the gastrointestinal tract	0/20
HP: 0012851	Colonic stenosis	0/20
HP: 0025031	Abnormality of the digestive system	0/20
HP: 0025033	Abnormality of digestive system morphology	0/20
HP: 0030669	Abnormal ocular adnexa morphology	0/20
HP: 0030947	Conjunctival follicles	0/20
HP: 0032039	Abnormality of the ocular adnexa	0/20
HP: 0100273	Neoplasm of the colon	0/20
HP: 0100811	Aplasia/Hypoplasia of the colon	0/20
HP: 0100834	Neoplasm of the large intestine	0/20
HP: 0500027	Aplastic colon	0/20
HP: 0500039	Conjunctival cicatrization	0/20
HP: 0500040	Dermolipoma of the conjunctiva	0/20

Ascending colon

C18.2

Case/Control GWAS ^ⓘ

Links

Statistics

Top SNP Information

Associated Phenotypes ^ⓘ

Ascending colon

C18.2

Case/Control GWAS ⓘ

Links

Statistics

Top SNP Information Show Table

Associated Phenotypes ⓘ Shared SNP phenotypes No shared SNP phenotypes

Case/Control GWAS ^ⓘ

Top SNP Information

Associated Phenotypes ^ⓘ