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ICD-10
HPO
Compare GWAS
Super Class
Disorders of skin appendages
Sub Class
Epidermal cyst
Trichilemmal cyst
Other follicular cysts of skin and subcutaneous tissue
Follicular cyst of skin and subcutaneous tissue, unspecified
Follicular cysts of skin and subcutaneous tissue
L72
Case/Control GWAS
ⓘ
Links
Sex Split
Interactive Plot
Statistics
Case
Control
9964
450230
Top SNP Information
Show Table
Location
SNP
Gene
Ref>Alt
Alt in Case
Alt in Control
Chi-square
P-value
Odds Ratio
chr3:38051211
rs75495843
PLCD1
G>A
1817
27192
2408.0
0.0
3.237
chr3:38567586
rs6796657
EXOG
C>A
929
18315
671.9
3.813e-148
2.374
chr3:38386544
rs114959814
-
G>A
1137
26586
522.8
1.044e-115
2.009
chr3:37999745
rs7629707
CTDSPL
G>A
2415
72179
456.7
2.542e-101
1.593
chr3:38033071
rs60721494
VILL
G>T
4280
147557
385.0
1.008e-85
1.404
chr3:38047954
rs9816693
VILL
G>C
4878
176596
311.6
9.982e-70
1.338
chr3:38086463
rs11713291
DLEC1
G>A
2822
99498
203.8
3.161e-46
1.339
chr3:38355917
rs194706
SLC22A14
C>T
1682
55932
172.9
1.686e-39
1.402
chr3:38719603
rs78791500
-
G>A
596
15928
170.7
5.24e-39
1.727
chr3:37996268
rs11919078
CTDSPL
G>A
3605
134694
161.1
6.545e-37
1.265
chr3:38005183
rs6801985
CTDSPL
G>A
4282
164013
152.8
4.176e-35
1.239
chr3:37760669
rs73052920
ITGA9
T>G
1011
31298
152.6
4.597e-35
1.495
chr3:37996477
rs9311171
CTDSPL
T>G
4283
164547
146.3
1.096e-33
1.233
chr3:37887360
rs6794868
-
G>A
4138
159154
139.3
3.771e-32
1.23
chr3:37960045
rs9816217
CTDSPL
A>G
4913
197779
91.53
1.101e-21
1.171
chr3:38671560
rs45567533
SCN5A
A>G
4389
175702
86.06
1.748e-20
1.173
chr3:37914922
rs9877943
CTDSPL
G>A
5314
216671
83.9
5.21e-20
1.158
chr3:37520454
rs115020200
ITGA9
G>C
1264
44792
81.69
1.592e-19
1.304
chr3:38000885
rs6787874
CTDSPL
G>A
6240
258105
79.1
5.908e-19
1.146
chr3:36863059
rs78889204
-
G>A
938
32582
69.73
6.793e-17
1.326
Associated Phenotypes
ⓘ
Shared SNP phenotypes
No shared SNP phenotypes
ID
Name
Top Correlation
HP: 0000951
Abnormality of the skin
1/20
HP: 0001574
Abnormality of the integument
1/20
HP: 0001747
Accessory spleen
1/20
HP: 0003764
Nevus
11/20
HP: 0007446
Palmoplantar blistering
1/20
HP: 0008069
Neoplasm of the skin
1/20
HP: 0009799
Supernumerary spleens
1/20
HP: 0010566
Hamartoma
9/20
HP: 0010815
Nevus sebaceous
15/20
HP: 0010816
Epidermal nevus
15/20
HP: 0011121
Abnormality of skin morphology
1/20
HP: 0011138
Abnormality of skin adnexa morphology
1/20
HP: 0011355
Localized skin lesion
1/20
HP: 0011792
Neoplasm by histology
1/20
HP: 0012035
Steatocystoma multiplex
20/20
HP: 0012096
Intracranial epidermoid cyst
1/20
HP: 0012842
Skin appendage neoplasm
16/20
HP: 0012843
Hair follicle neoplasm
17/20
HP: 0012844
Trichilemmoma
17/20
HP: 0025245
Cutaneous cyst
18/20
HP: 0025246
Trichilemmal cyst
19/20
HP: 0025247
Dermoid cyst
1/20
HP: 0025248
Eruptive vellus hair cyst
20/20
HP: 0025511
Nevus sebaceus
15/20
HP: 0030423
Splenic cyst
1/20
HP: 0031111
Cutaneous hamartoma
20/20
HP: 0100848
Neoplasm of the male external genitalia
1/20
HP: 0100849
Neoplasm of the scrotum
1/20
HP: 0200040
Epidermoid cyst
18/20
ID
Name
Top Correlation
HP: 0000032
Abnormality of male external genitalia
0/20
HP: 0000045
Abnormality of the scrotum
0/20
HP: 0000078
Abnormality of the genital system
0/20
HP: 0000118
Phenotypic abnormality
0/20
HP: 0000119
Abnormality of the genitourinary system
0/20
HP: 0000152
Abnormality of head or neck
0/20
HP: 0000153
Abnormality of the mouth
0/20
HP: 0000163
Abnormal oral cavity morphology
0/20
HP: 0000164
Abnormality of the dentition
0/20
HP: 0000234
Abnormality of the head
0/20
HP: 0000271
Abnormality of the face
0/20
HP: 0000707
Abnormality of the nervous system
0/20
HP: 0000811
Abnormal external genitalia
0/20
HP: 0000924
Abnormality of the skeletal system
0/20
HP: 0000962
Hyperkeratosis
0/20
HP: 0000975
Hyperhidrosis
0/20
HP: 0001056
Milia
0/20
HP: 0001072
Thickened skin
0/20
HP: 0001155
Abnormality of the hand
0/20
HP: 0001595
Abnormal hair morphology
0/20
HP: 0001626
Abnormality of the cardiovascular system
0/20
HP: 0001743
Abnormality of the spleen
0/20
HP: 0001760
Abnormality of the foot
0/20
HP: 0002011
Morphological central nervous system abnormality
0/20
HP: 0002012
Abnormality of the abdominal organs
0/20
HP: 0002597
Abnormality of the vasculature
0/20
HP: 0002664
Neoplasm
0/20
HP: 0002715
Abnormality of the immune system
0/20
HP: 0002814
Abnormality of the lower limb
0/20
HP: 0002817
Abnormality of the upper limb
0/20
HP: 0003011
Abnormality of the musculature
0/20
HP: 0003328
Abnormal hair laboratory examination
0/20
HP: 0003560
Muscular dystrophy
0/20
HP: 0006089
Palmar hyperhidrosis
0/20
HP: 0006288
Advanced eruption of teeth
0/20
HP: 0006292
Abnormality of dental eruption
0/20
HP: 0007081
Late-onset muscular dystrophy
0/20
HP: 0007379
Neoplasm of the genitourinary tract
0/20
HP: 0007410
Palmoplantar hyperhidrosis
0/20
HP: 0007550
Hypohidrosis or hyperhidrosis
0/20
HP: 0010461
Abnormality of the male genitalia
0/20
HP: 0010576
Intracranial cystic lesion
0/20
HP: 0010787
Genital neoplasm
0/20
HP: 0011124
Abnormality of epidermal morphology
0/20
HP: 0011356
Regional abnormality of skin
0/20
HP: 0011368
Epidermal thickening
0/20
HP: 0011793
Neoplasm by anatomical site
0/20
HP: 0011805
Abnormal skeletal muscle morphology
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: 0025276
Abnormality of skin adnexa physiology
0/20
HP: 0025408
Abnormal spleen morphology
0/20
HP: 0030724
Central nervous system cyst
0/20
HP: 0031816
Abnormal oral morphology
0/20
HP: 0040064
Abnormality of limbs
0/20
HP: 0040211
Abnormality of the skin of the palm
0/20
HP: 0100763
Abnormality of the lymphatic system
0/20
HP: 0100871
Abnormality of the palm
0/20
HP: 0100872
Abnormality of the plantar skin of foot
0/20