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ICD-10
HPO
Compare GWAS
Super Class
Other malignant neoplasms of skin
Sub Class
Skin of ear and external auricular canal
C44.2
Case/Control GWAS
ⓘ
Links
Sex Split
Interactive Plot
Statistics
Case
Control
1143
459062
Top SNP Information
Show Table
Location
SNP
Gene
Ref>Alt
Alt in Case
Alt in Control
Chi-square
P-value
Odds Ratio
chr5:33951693
rs16891982
SLC45A2
G>C
37
67024
100.5
1.195e-23
0.2202
chr6:396321
rs12203592
IRF4
C>T
654
200557
86.19
1.635e-20
1.534
chr5:33958959
rs28777
SLC45A2
A>C
31
56964
85.15
2.764e-20
0.219
chr15:48426484
rs1426654
SLC24A5
A>G
3
27523
61.16
5.262e-15
0.0447
chr5:33955673
rs35391
SLC45A2
C>T
22
40960
60.64
6.869e-15
0.219
chr5:33955326
rs35390
SLC45A2
A>C
23
41126
59.55
1.191e-14
0.2278
chr5:33951116
rs35397
SLC45A2
T>G
110
90001
56.11
6.864e-14
0.4883
chr6:421281
rs62389423
-
G>A
521
163520
55.36
1.005e-13
1.446
chr2:66725070
rs12995572
MEIS1
G>C
14
27137
40.48
1.987e-10
0.2129
chr6:136480972
rs9483910
PDE7B
C>T
6
21366
40.4
2.067e-10
0.1158
chr8:145639681
rs1871534
SLC39A4
G>C
2
18143
39.92
2.646e-10
0.04559
chr1:159174683
rs2814778
ACKR1
T>C
4
19373
39.1
4.024e-10
0.0854
chr15:48392165
rs1834640
-
A>G
22
31602
38.74
4.837e-10
0.2863
chr19:42393286
rs717225
ARHGEF1
A>G
8
21935
38.2
6.378e-10
0.1505
chr1:1220954
rs12751100
SCNN1D
G>A
60
53725
37.84
7.698e-10
0.4562
chr5:147666044
rs7707813
-
T>C
4
18759
37.51
9.11e-10
0.08844
chr9:16507737
rs7849139
BNC2
C>A
70
59014
37.33
9.967e-10
0.4838
chr5:147671850
rs7724380
-
G>A
6
20177
37.27
1.028e-09
0.1234
chr15:28365618
rs12913832
HERC2
G>A
458
247431
37.03
1.164e-09
0.7285
chr16:9229056
rs9925564
-
A>G
11
23244
36.22
1.761e-09
0.1955
chr6:396321
rs12203592
IRF4
C>T
650
198271
65.3
6.42e-16
1.455
chr6:421281
rs62389423
-
G>A
517
161353
40.67
1.802e-10
1.375
chr16:90048395
rs45610233
-
C>T
278
83381
26.0
3.409e-07
1.385
chr6:32830568
rs9276826
-
A>G
304
92765
25.81
3.759e-07
1.367
chr6:32798548
rs1042116
AL669918.1
G>A
328
102171
24.2
8.704e-07
1.34
chr6:32782582
rs2071474
HLA-DOB
C>T
733
252204
24.09
9.209e-07
1.246
chr16:89755903
rs258322
CDK10
G>A
342
107230
23.83
1.051e-06
1.331
chr6:32784620
rs2071472
HLA-DOB
C>T
727
250742
23.82
1.058e-06
1.245
chr7:18994327
rs79063668
HDAC9
A>G
176
49412
23.8
1.07e-06
1.464
chr6:32740411
rs2857212
-
A>G
941
334138
23.6
1.183e-06
1.23
chr6:32784753
rs2071470
HLA-DOB
T>C
730
252020
23.16
1.494e-06
1.241
chr2:202215492
rs13014235
FLACC1
G>C
1006
359441
22.92
1.693e-06
1.224
chr16:89986117
Affx-35293625
MC1R
C>T
302
93892
22.83
1.767e-06
1.343
chr6:32797620
rs241438
AL669918.1
C>T
926
327790
22.68
1.916e-06
1.225
chr16:89818732
rs12931267
FANCA
C>G
300
92798
22.55
2.043e-06
1.341
chr16:27824831
rs6498038
GSG1L
C>A
756
348128
22.4
2.217e-06
0.8103
chr8:131711604
rs72728283
-
C>T
71
16444
22.3
2.334e-06
1.756
chr6:32775004
rs2621342
-
C>T
766
266903
22.05
2.659e-06
1.231
chr6:32768721
rs2621367
-
G>A
763
266577
21.91
2.851e-06
1.231
chr6:15874151
rs75343627
-
T>C
49
10218
21.91
2.859e-06
1.945
Associated Phenotypes
ⓘ
Shared SNP phenotypes
No shared SNP phenotypes
ID
Name
Top Correlation
HP: 0000118
Phenotypic abnormality
4/20
HP: 0000152
Abnormality of head or neck
4/20
HP: 0000234
Abnormality of the head
4/20
HP: 0000271
Abnormality of the face
2/20
HP: 0000478
Abnormality of the eye
2/20
HP: 0000707
Abnormality of the nervous system
3/20
HP: 0000864
Abnormality of the hypothalamus-pituitary axis
8/20
HP: 0000924
Abnormality of the skeletal system
2/20
HP: 0000951
Abnormality of the skin
2/20
HP: 0000964
Eczema
14/20
HP: 0000988
Skin rash
12/20
HP: 0001000
Abnormality of skin pigmentation
13/20
HP: 0001010
Hypopigmentation of the skin
14/20
HP: 0001574
Abnormality of the integument
2/20
HP: 0001595
Abnormal hair morphology
13/20
HP: 0001626
Abnormality of the cardiovascular system
2/20
HP: 0001871
Abnormality of blood and blood-forming tissues
2/20
HP: 0001872
Abnormal thrombocyte morphology
2/20
HP: 0001873
Thrombocytopenia
2/20
HP: 0001876
Pancytopenia
2/20
HP: 0001881
Abnormal leukocyte morphology
2/20
HP: 0001915
Aplastic anemia
2/20
HP: 0002011
Morphological central nervous system abnormality
6/20
HP: 0002297
Red hair
14/20
HP: 0002597
Abnormality of the vasculature
2/20
HP: 0002664
Neoplasm
5/20
HP: 0002671
Basal cell carcinoma
13/20
HP: 0002715
Abnormality of the immune system
3/20
HP: 0002860
Squamous cell carcinoma
14/20
HP: 0002861
Melanoma
14/20
HP: 0002893
Pituitary adenoma
14/20
HP: 0003549
Abnormality of connective tissue
9/20
HP: 0005561
Abnormality of bone marrow cell morphology
2/20
HP: 0006739
Squamous cell carcinoma of the skin
13/20
HP: 0007513
Generalized hypopigmentation
14/20
HP: 0007716
Uveal melanoma
15/20
HP: 0008069
Neoplasm of the skin
6/20
HP: 0009887
Abnormality of hair pigmentation
14/20
HP: 0010622
Neoplasm of the skeletal system
14/20
HP: 0010978
Abnormality of immune system physiology
4/20
HP: 0010987
Abnormal cellular immune system morphology
2/20
HP: 0011121
Abnormality of skin morphology
7/20
HP: 0011122
Abnormality of skin physiology
10/20
HP: 0011123
Inflammatory abnormality of the skin
10/20
HP: 0011138
Abnormality of skin adnexa morphology
13/20
HP: 0011355
Localized skin lesion
8/20
HP: 0011747
Abnormality of the anterior pituitary
9/20
HP: 0011750
Neoplasm of the anterior pituitary
14/20
HP: 0011792
Neoplasm by histology
2/20
HP: 0011793
Neoplasm by anatomical site
5/20
HP: 0011842
Abnormality of skeletal morphology
2/20
HP: 0011873
Abnormal platelet count
2/20
HP: 0011893
Abnormal leukocyte count
2/20
HP: 0012056
Cutaneous melanoma
15/20
HP: 0012145
Abnormality of multiple cell lineages in the bone marrow
2/20
HP: 0012372
Abnormal eye morphology
2/20
HP: 0012443
Abnormality of brain morphology
7/20
HP: 0012503
Abnormality of the pituitary gland
8/20
HP: 0012639
Abnormal nervous system morphology
3/20
HP: 0012647
Abnormal inflammatory response
5/20
HP: 0012649
Increased inflammatory response
5/20
HP: 0012740
Papilloma
14/20
HP: 0025127
Actinic keratosis
13/20
HP: 0025474
Erythematous plaque
13/20
HP: 0032251
Abnormal immune system morphology
2/20
HP: 0032282
Contact dermatitis
15/20
HP: 0040277
Neoplasm of the pituitary gland
14/20
HP: 0100012
Neoplasm of the eye
15/20
HP: 0100568
Neoplasm of the endocrine system
15/20
HP: 0100658
Cellulitis
12/20
HP: 0100777
Exostoses
14/20
HP: 0200035
Skin plaque
13/20
HP: 0200043
Verrucae
15/20
ID
Name
Top Correlation