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ICD-10
HPO
Compare GWAS
Super Class
Follicular cysts of skin and subcutaneous tissue
Sub Class
Epidermal cyst
L72.0
Female
ⓘ
Male
ⓘ
Links
Ignore Sex
Interactive Plot
Statistics
Female Case
Female Control
% Female
1482
248381
53%
Male Case
Male Control
% Male
1334
209008
47%
Top SNP Information
Show Female
Show Male
Location
SNP
Gene
Ref>Alt
Alt in Case
Alt in Control
Chi-square
P-value
Odds ratio
chr3:38051211
rs75495843
PLCD1
G>A
144
15448
31.76
1.746e-08
1.614
chr17:587190
rs79830737
VPS53
C>T
72
6764
26.34
2.865e-07
1.833
chr14:75671659
rs6574212
-
A>G
1323
248980
24.93
5.956e-07
0.8337
chr14:75532941
rs7156328
ACYP1
T>C
1322
248358
23.88
1.025e-06
0.8368
chr14:75538217
rs3742778
ZC2HC1C
G>T
1321
246006
23.66
1.152e-06
0.8371
chr14:75590822
rs8017642
NEK9
G>A
1324
248624
23.51
1.245e-06
0.838
chr14:75626042
rs910316
TMED10
A>C
1335
249634
23.46
1.278e-06
0.8385
chr14:75574087
rs10146482
ZC2HC1C
C>T
1327
249502
23.2
1.462e-06
0.839
chr14:75459633
rs175016
-
C>T
1573
245708
22.12
2.561e-06
1.186
chr17:663472
rs77166377
GLOD4
C>A
153
17909
22.11
2.573e-06
1.476
chr3:161763159
rs115893695
-
G>A
145
16853
21.55
3.45e-06
1.483
chr10:108041331
rs113357323
-
T>C
71
7037
21.35
3.822e-06
1.734
chr3:4123438
rs75030206
SUMF1
C>T
125
14139
21.29
3.942e-06
1.522
chr3:42963974
rs73079247
AC092042.3
G>A
82
8458
21.15
4.248e-06
1.668
chr11:114621469
rs1712790
-
C>T
1341
250094
20.81
5.084e-06
0.8471
chr11:123498206
rs72552153
GRAMD1B
G>A
69
6834
20.69
5.392e-06
1.733
chr14:75537381
rs11546525
ZC2HC1C
C>T
1141
215376
20.52
5.912e-06
0.8444
chr5:31799522
rs145138976
PDZD2
C>T
144
16940
20.36
6.428e-06
1.469
chr10:122247789
rs17705622
PLPP4
A>G
286
37651
20.27
6.727e-06
1.323
chr10:4230926
rs76748522
-
A>G
189
23363
20.07
7.477e-06
1.399
Location
SNP
Gene
Ref>Alt
Alt in Case
Alt in Control
Chi-square
P-value
Odds ratio
chr8:26770937
rs73233245
-
G>T
59
4752
28.33
1.022e-07
1.996
chr2:9996623
rs16867203
TAF1B
C>T
523
68286
24.39
7.849e-07
1.271
chr7:89572262
rs112816669
-
G>A
117
12012
23.33
1.366e-06
1.575
chr1:21351885
rs61779064
EIF4G3
C>T
291
35471
22.58
2.019e-06
1.342
chr4:135608367
rs75890193
-
T>C
54
4551
22.5
2.1e-06
1.905
chr22:19132196
rs57419021
ESS2
G>A
57
4885
22.13
2.542e-06
1.866
chr15:56292720
rs113203465
-
C>T
148
16109
22.12
2.559e-06
1.487
chr3:26904956
rs79288438
-
G>A
284
34683
21.42
3.696e-06
1.336
chr11:123974449
rs17689621
-
A>G
279
34104
20.74
5.272e-06
1.333
chr17:2908162
rs117464358
RAP1GAP2
G>A
91
9060
20.63
5.563e-06
1.619
chr17:31967697
rs11658082
ASIC2
G>T
291
59173
20.29
6.654e-06
0.7565
chr22:48705432
rs117789314
-
C>T
76
7278
20.14
7.184e-06
1.68
chr14:58625502
rs17094389
ARMH4
T>C
68
6347
19.94
7.976e-06
1.724
chr1:21552149
rs1076032
ECE1
C>T
299
37125
19.81
8.561e-06
1.313
chr2:173806585
rs116082003
RAPGEF4
G>A
88
8775
19.76
8.761e-06
1.615
chr5:36520332
rs116528164
-
G>A
165
18801
19.74
8.877e-06
1.428
chr20:42516770
rs144202972
-
G>A
64
5901
19.54
9.871e-06
1.742
chr7:129177406
rs10954240
-
C>T
930
131195
19.31
1.111e-05
1.194
chr15:45779810
rs2453531
SLC30A4
A>G
963
136406
19.27
1.137e-05
1.192
chr3:186036453
rs1544702
DGKG
C>T
711
97710
19.05
1.276e-05
1.209
Associated Phenotypes
ⓘ
Shared SNP phenotype
No shared SNP phenotype
ID
Name
Top Correlation
HP: 0000032
Abnormality of male external genitalia
3/20
HP: 0000045
Abnormality of the scrotum
6/20
HP: 0000118
Phenotypic abnormality
1/20
HP: 0000811
Abnormal external genitalia
1/20
HP: 0000951
Abnormality of the skin
1/20
HP: 0001155
Abnormality of the hand
1/20
HP: 0001574
Abnormality of the integument
1/20
HP: 0001747
Accessory spleen
10/20
HP: 0001760
Abnormality of the foot
1/20
HP: 0002011
Morphological central nervous system abnormality
1/20
HP: 0002664
Neoplasm
1/20
HP: 0002814
Abnormality of the lower limb
1/20
HP: 0002817
Abnormality of the upper limb
1/20
HP: 0007446
Palmoplantar blistering
20/20
HP: 0009799
Supernumerary spleens
10/20
HP: 0010461
Abnormality of the male genitalia
3/20
HP: 0011121
Abnormality of skin morphology
2/20
HP: 0011355
Localized skin lesion
2/20
HP: 0011793
Neoplasm by anatomical site
1/20
HP: 0012096
Intracranial epidermoid cyst
19/20
HP: 0025245
Cutaneous cyst
1/20
HP: 0025246
Trichilemmal cyst
1/20
HP: 0025247
Dermoid cyst
10/20
HP: 0025408
Abnormal spleen morphology
1/20
HP: 0030423
Splenic cyst
9/20
HP: 0040064
Abnormality of limbs
1/20
HP: 0040211
Abnormality of the skin of the palm
1/20
HP: 0100848
Neoplasm of the male external genitalia
4/20
HP: 0100849
Neoplasm of the scrotum
12/20
HP: 0100871
Abnormality of the palm
1/20
HP: 0200040
Epidermoid cyst
1/20
ID
Name
Top Correlation
HP: 0000078
Abnormality of the genital system
0/20
HP: 0000119
Abnormality of the genitourinary system
0/20
HP: 0000707
Abnormality of the nervous system
0/20
HP: 0001626
Abnormality of the cardiovascular system
0/20
HP: 0001743
Abnormality of the spleen
0/20
HP: 0002012
Abnormality of the abdominal organs
0/20
HP: 0002597
Abnormality of the vasculature
0/20
HP: 0002715
Abnormality of the immune system
0/20
HP: 0007379
Neoplasm of the genitourinary tract
0/20
HP: 0010576
Intracranial cystic lesion
0/20
HP: 0010787
Genital neoplasm
0/20
HP: 0011356
Regional abnormality of skin
0/20
HP: 0012243
Abnormal reproductive system morphology
0/20
HP: 0012639
Abnormal nervous system morphology
0/20
HP: 0025031
Abnormality of the digestive system
0/20
HP: 0025033
Abnormality of digestive system morphology
0/20
HP: 0030724
Central nervous system cyst
0/20
HP: 0100763
Abnormality of the lymphatic system
0/20
HP: 0100872
Abnormality of the plantar skin of foot
0/20