Home
About
Help
ICD-10
HPO
Compare GWAS
Super Class
Other malignant neoplasms of skin
Sub Class
Skin of other and unspecified parts of face
C44.3
Case/Control GWAS
ⓘ
Links
Sex Split
Interactive Plot
Statistics
Case
Control
8133
452072
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
317
66744
633.1
1.071e-139
0.2643
chr5:33958959
rs28777
SLC45A2
A>C
281
56714
513.9
8.875e-114
0.2783
chr6:396321
rs12203592
IRF4
C>T
4471
196740
464.0
6.642e-103
1.464
chr15:48426484
rs1426654
SLC24A5
A>G
19
27507
444.1
1.421e-98
0.03939
chr5:33951116
rs35397
SLC45A2
T>G
778
89333
397.7
1.709e-88
0.4865
chr15:48392165
rs1834640
-
A>G
110
31514
349.9
4.4e-78
0.1994
chr5:33955673
rs35391
SLC45A2
C>T
218
40764
339.7
7.414e-76
0.3045
chr5:33955326
rs35390
SLC45A2
A>C
221
40928
338.2
1.576e-75
0.3074
chr6:421281
rs62389423
-
G>A
3580
160461
308.3
5.102e-69
1.397
chr1:159174683
rs2814778
ACKR1
T>C
32
19345
273.9
1.603e-61
0.09526
chr19:42393286
rs717225
ARHGEF1
A>G
60
21883
268.1
2.99e-60
0.1577
chr16:28995057
rs11859822
SPNS1
T>C
142
29294
262.8
4.231e-59
0.2779
chr16:28954860
rs7203982
-
T>C
148
29234
252.7
6.622e-57
0.2905
chr19:42392441
rs16975619
ARHGEF1
T>C
51
19959
250.5
2.043e-56
0.1472
chr6:3185712
rs7754077
-
C>T
39
18633
248.7
4.897e-56
0.1207
chr6:136480972
rs9483910
PDE7B
C>T
70
21302
240.9
2.458e-54
0.1894
chr8:145639681
rs1871534
SLC39A4
G>C
39
18106
240.1
3.696e-54
0.124
chr19:42391425
rs28521795
ARHGEF1
G>A
46
18776
239.3
5.564e-54
0.141
chr2:66725070
rs12995572
MEIS1
G>C
133
27018
238.5
8.257e-54
0.2829
chr5:147863034
rs9325101
HTR4
A>G
28
16712
235.5
3.819e-53
0.09668
chr6:396321
rs12203592
IRF4
C>T
4446
194475
324.5
1.482e-72
1.377
chr6:421281
rs62389423
-
G>A
3563
158307
214.4
1.542e-48
1.323
chr20:2290333
rs214803
AL121899.2
A>C
3442
161861
114.8
8.688e-27
1.231
chr16:89818732
rs12931267
FANCA
C>G
2038
91060
106.4
6.019e-25
1.279
chr16:89986117
Affx-35293625
MC1R
C>T
2058
92136
106.1
7.017e-25
1.278
chr2:202215492
rs13014235
FLACC1
G>C
6972
353475
96.16
1.06e-22
1.17
chr5:1297488
rs2736108
-
C>T
5498
273409
94.9
2.005e-22
1.177
chr20:2279955
rs62192643
AL121899.2
G>A
2794
131055
93.41
4.261e-22
1.225
chr5:1322087
rs401681
CLPTM1L
C>T
6522
396984
93.32
4.45e-22
0.8557
chr1:228989201
rs801109
-
C>T
4637
227899
90.68
1.689e-21
1.182
chr1:17729903
rs2526828
-
G>A
6734
341811
88.71
4.569e-21
1.163
chr2:202143928
rs10931936
CASP8
C>T
4883
241763
88.01
6.505e-21
1.176
chr1:17760098
rs4920607
RCC2
A>G
6498
329167
87.21
9.746e-21
1.163
chr16:89755903
rs258322
CDK10
G>A
2279
105293
87.14
1.011e-20
1.237
chr16:90067184
rs73283869
-
G>A
1894
85835
86.08
1.728e-20
1.257
chr1:17722363
rs7538876
PADI6
G>A
6861
349418
85.29
2.58e-20
1.159
chr16:90067136
rs78800020
-
G>C
1902
86294
85.12
2.813e-20
1.255
chr16:90048395
rs45610233
-
C>T
1806
81853
81.6
1.67e-19
1.255
chr6:475489
rs12210050
-
C>T
3746
182257
81.29
1.953e-19
1.185
chr16:89687407
rs2280374
DPEP1
C>T
1963
90020
79.64
4.49e-19
1.242
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
13/20
HP: 0001000
Abnormality of skin pigmentation
17/20
HP: 0001010
Hypopigmentation of the skin
20/20
HP: 0001574
Abnormality of the integument
2/20
HP: 0001595
Abnormal hair morphology
15/20
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
19/20
HP: 0002597
Abnormality of the vasculature
2/20
HP: 0002664
Neoplasm
5/20
HP: 0002671
Basal cell carcinoma
18/20
HP: 0002715
Abnormality of the immune system
3/20
HP: 0002860
Squamous cell carcinoma
18/20
HP: 0002861
Melanoma
14/20
HP: 0002893
Pituitary adenoma
17/20
HP: 0003549
Abnormality of connective tissue
10/20
HP: 0005561
Abnormality of bone marrow cell morphology
2/20
HP: 0006739
Squamous cell carcinoma of the skin
18/20
HP: 0007513
Generalized hypopigmentation
19/20
HP: 0007716
Uveal melanoma
19/20
HP: 0008069
Neoplasm of the skin
6/20
HP: 0009887
Abnormality of hair pigmentation
19/20
HP: 0010622
Neoplasm of the skeletal system
17/20
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
9/20
HP: 0011123
Inflammatory abnormality of the skin
8/20
HP: 0011138
Abnormality of skin adnexa morphology
14/20
HP: 0011355
Localized skin lesion
10/20
HP: 0011747
Abnormality of the anterior pituitary
9/20
HP: 0011750
Neoplasm of the anterior pituitary
17/20
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
13/20
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
4/20
HP: 0012649
Increased inflammatory response
4/20
HP: 0012740
Papilloma
17/20
HP: 0025127
Actinic keratosis
18/20
HP: 0025474
Erythematous plaque
18/20
HP: 0032251
Abnormal immune system morphology
2/20
HP: 0032282
Contact dermatitis
17/20
HP: 0040277
Neoplasm of the pituitary gland
16/20
HP: 0100012
Neoplasm of the eye
17/20
HP: 0100568
Neoplasm of the endocrine system
14/20
HP: 0100658
Cellulitis
18/20
HP: 0100777
Exostoses
19/20
HP: 0200035
Skin plaque
18/20
HP: 0200043
Verrucae
17/20
ID
Name
Top Correlation