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ICD-10
HPO
Compare GWAS
Super Class
Other disorders of pigmentation
Sub Class
Other melanin hyperpigmentation
L81.4
Case/Control GWAS
ⓘ
Links
Sex Split
Interactive Plot
Statistics
Case
Control
679
459526
Top SNP Information
Show Table
Location
SNP
Gene
Ref>Alt
Alt in Case
Alt in Control
Chi-square
P-value
Odds Ratio
chr6:396321
rs12203592
IRF4
C>T
361
200850
25.81
3.772e-07
1.365
chr10:113795718
Affx-2525380
-
C>T
61
23006
24.79
6.399e-07
1.9
chr11:89005253
rs1847134
TYR
A>C
540
318625
24.38
7.914e-07
1.312
chr14:89728488
rs76039464
FOXN3
T>C
88
37366
23.6
1.188e-06
1.698
chr4:179351355
rs148737459
-
C>A
38
12667
22.27
2.372e-06
2.136
chr8:62209043
rs61592776
CLVS1
C>G
84
95970
22.18
2.477e-06
0.5918
chr15:29223282
rs8026324
APBA2
T>A
24
41652
22.03
2.687e-06
0.3935
chr6:32711178
rs17500468
HLA-DQA2
A>G
214
111370
21.93
2.83e-06
1.414
chr5:150744496
rs79184111
-
C>T
49
17912
21.92
2.84e-06
1.953
chr11:89011046
rs1393350
TYR
G>A
463
269985
21.9
2.867e-06
1.305
chr11:89017961
rs1126809
TYR
G>A
464
271606
21.84
2.957e-06
1.307
chr6:114962240
rs75245088
-
T>G
53
19973
21.75
3.105e-06
1.903
chr11:134561893
rs35430067
-
G>A
192
98430
21.55
3.454e-06
1.433
chr7:88577723
rs73202737
ZNF804B
A>G
186
94798
21.24
4.057e-06
1.436
chr1:112062836
rs55796542
TMIGD3
G>T
287
254628
21.09
4.377e-06
0.7382
chr20:62905851
rs41279358
PCMTD2
C>A
165
159469
20.41
6.266e-06
0.6889
chr7:5486900
rs11982148
FBXL18
A>G
353
302411
20.37
6.381e-06
0.7576
chr11:79065101
rs530965
TENM4
C>T
769
482158
20.15
7.168e-06
1.274
chr7:5482518
rs73059749
FBXL18
A>G
375
319370
20.06
7.497e-06
0.7631
chr12:66704225
rs75770066
HELB
A>G
75
31864
20.04
7.579e-06
1.692
Associated Phenotypes
ⓘ
Shared SNP phenotypes
No shared SNP phenotypes
ID
Name
Top Correlation
HP: 0000118
Phenotypic abnormality
1/20
HP: 0000152
Abnormality of head or neck
1/20
HP: 0000153
Abnormality of the mouth
1/20
HP: 0000163
Abnormal oral cavity morphology
1/20
HP: 0000234
Abnormality of the head
1/20
HP: 0000271
Abnormality of the face
1/20
HP: 0000951
Abnormality of the skin
1/20
HP: 0001036
Parakeratosis
1/20
HP: 0001574
Abnormality of the integument
1/20
HP: 0011121
Abnormality of skin morphology
1/20
HP: 0011124
Abnormality of epidermal morphology
1/20
HP: 0011355
Localized skin lesion
1/20
HP: 0011368
Epidermal thickening
1/20
HP: 0011830
Abnormal oral mucosa morphology
1/20
HP: 0012733
Macule
3/20
HP: 0025031
Abnormality of the digestive system
1/20
HP: 0025033
Abnormality of digestive system morphology
1/20
HP: 0025092
Epidermal acanthosis
6/20
HP: 0025272
Melasma
1/20
HP: 0031816
Abnormal oral morphology
1/20
ID
Name
Top Correlation
HP: 0000953
Hyperpigmentation of the skin
0/20
HP: 0001000
Abnormality of skin pigmentation
0/20
HP: 0001072
Thickened skin
0/20
HP: 0010284
Intra-oral hyperpigmentation
0/20
HP: 0100669
Abnormal pigmentation of the oral mucosa
0/20