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ICD-10
HPO
Compare GWAS
Super Class
Disorders of lipoprotein metabolism and other lipidaemias
Sub Class
Disorder of lipoprotein metabolism, unspecified
E78.9
Case/Control GWAS
ⓘ
Links
Sex Split
Interactive Plot
Statistics
Case
Control
365
459840
Top SNP Information
Show Table
Location
SNP
Gene
Ref>Alt
Alt in Case
Alt in Control
Chi-square
P-value
Odds Ratio
chr11:58626688
rs535960
GLYATL2
C>A
47
28151
27.13
1.898e-07
2.15
chr11:58478084
rs675815
GLYAT
C>T
37
20927
24.86
6.151e-07
2.265
chr3:191932796
rs9883097
FGF12
C>A
56
36947
24.12
9.072e-07
1.952
chr11:130116507
rs117345882
ZBTB44
C>G
29
15370
22.59
2.006e-06
2.392
chr10:123971687
rs118051689
TACC2
A>G
26
13210
22.54
2.059e-06
2.498
chr11:58472622
rs540592
GLYAT
A>C
36
21093
21.97
2.765e-06
2.183
chr17:69686131
rs116927798
-
T>G
37
22058
21.71
3.167e-06
2.153
chr16:52204298
rs72792181
-
G>C
25
12911
20.79
5.136e-06
2.453
chr21:22428580
rs8132873
NCAM2
C>T
54
36869
20.68
5.431e-06
1.88
chr11:58664473
rs11229685
GLYATL2
G>A
38
23240
20.44
6.156e-06
2.087
chr5:31642605
rs116400645
PDZD2
G>A
37
22497
20.2
6.982e-06
2.097
chr6:102656574
rs9322636
-
C>T
252
246047
19.94
8.008e-06
1.405
chr10:135204609
rs78196747
PAOX
T>C
62
44922
19.46
1.029e-05
1.779
chr20:59549499
rs77204232
-
C>T
26
14049
19.37
1.077e-05
2.346
chr5:41231593
rs34100651
C6
A>G
41
26288
19.2
1.177e-05
1.994
chr5:179858588
rs79410878
-
G>A
74
56962
18.87
1.397e-05
1.691
chr20:17901543
rs77109968
-
A>T
55
38868
18.84
1.421e-05
1.819
chr12:78858599
rs117643077
-
G>T
51
35295
18.65
1.567e-05
1.852
chr12:64386017
rs1350139
SRGAP1
A>G
103
85555
18.55
1.651e-05
1.571
chr2:2286483
rs9941545
MYT1L
A>C
56
39789
18.44
1.754e-05
1.799
Associated Phenotypes
ⓘ
Shared SNP phenotypes
No shared SNP phenotypes
ID
Name
Top Correlation
HP: 0001013
Eruptive xanthomas
11/20
HP: 0001927
Acanthocytosis
5/20
HP: 0003146
Hypocholesterolemia
15/20
HP: 0003563
Decreased LDL cholesterol concentration
2/20
HP: 0008158
Hyperapobetalipoproteinemia
20/20
HP: 0008181
Abetalipoproteinemia
2/20
HP: 0010874
Tendon xanthomatosis
3/20
HP: 0030814
Orange discolored tonsils
13/20
HP: 0031886
Abnormal LDL cholesterol concentration
2/20
ID
Name
Top Correlation
HP: 0000118
Phenotypic abnormality
0/20
HP: 0000152
Abnormality of head or neck
0/20
HP: 0000234
Abnormality of the head
0/20
HP: 0000600
Abnormality of the pharynx
0/20
HP: 0000924
Abnormality of the skeletal system
0/20
HP: 0000951
Abnormality of the skin
0/20
HP: 0000991
Xanthomatosis
0/20
HP: 0001574
Abnormality of the integument
0/20
HP: 0001626
Abnormality of the cardiovascular system
0/20
HP: 0001871
Abnormality of blood and blood-forming tissues
0/20
HP: 0001877
Abnormal erythrocyte morphology
0/20
HP: 0001939
Abnormality of metabolism/homeostasis
0/20
HP: 0002597
Abnormality of the vasculature
0/20
HP: 0002715
Abnormality of the immune system
0/20
HP: 0003107
Abnormal circulating cholesterol concentration
0/20
HP: 0003119
Abnormal circulating lipid concentration
0/20
HP: 0003549
Abnormality of connective tissue
0/20
HP: 0004447
Poikilocytosis
0/20
HP: 0010979
Abnormality of lipoprotein cholesterol concentration
0/20
HP: 0010981
Hypolipoproteinemia
0/20
HP: 0011121
Abnormality of skin morphology
0/20
HP: 0011355
Localized skin lesion
0/20
HP: 0011842
Abnormality of skeletal morphology
0/20
HP: 0012130
Abnormal erythroid lineage cell morphology
0/20
HP: 0020047
Abnormal myeloid cell morphology
0/20
HP: 0025031
Abnormality of the digestive system
0/20
HP: 0032180
Abnormal circulating metabolite concentration
0/20
HP: 0045014
Hypolipidemia
0/20
HP: 0100261
Abnormal tendon morphology
0/20
HP: 0100763
Abnormality of the lymphatic system
0/20
HP: 0100765
Abnormality of the tonsils
0/20
