rs1561892336, CUL7;KLC4

N. diseases: 13
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Abnormality of the elbow
CUI: C4021386
Disease: Abnormality of the elbow
1 0.807 0.200 6 43050050 stop gained C/T snv 0.700 1.000 1 2019 2019
Delayed bone age
CUI: C0541764
Disease: Delayed bone age
14 0.807 0.200 6 43050050 stop gained C/T snv 0.700 1.000 1 2019 2019
Frontal bossing
CUI: C0221354
Disease: Frontal bossing
22 0.807 0.200 6 43050050 stop gained C/T snv 0.700 1.000 1 2019 2019
Hypoplastic pelvis
CUI: C3536734
Disease: Hypoplastic pelvis
2 0.807 0.200 6 43050050 stop gained C/T snv 0.700 1.000 1 2019 2019
Intrauterine retardation
CUI: C1386048
Disease: Intrauterine retardation
56 0.807 0.200 6 43050050 stop gained C/T snv 0.700 1.000 1 2019 2019
Joint hyperflexibility
CUI: C3553764
Disease: Joint hyperflexibility
12 0.807 0.200 6 43050050 stop gained C/T snv 0.700 1.000 1 2019 2019
Long narrow head
CUI: C0221358
Disease: Long narrow head
26 0.807 0.200 6 43050050 stop gained C/T snv 0.700 1.000 1 2019 2019
Lordosis
CUI: C0024003
Disease: Lordosis
15 0.807 0.200 6 43050050 stop gained C/T snv 0.700 1.000 1 2019 2019
Miller-McKusick-Malvaux-Syndrome (3M Syndrome)
CUI: C1848862
Disease: Miller-McKusick-Malvaux-Syndrome (3M Syndrome)
11 0.807 0.200 6 43050050 stop gained C/T snv 0.700 1.000 1 2019 2019
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
135 0.807 0.200 6 43050050 stop gained C/T snv 0.700 1.000 1 2019 2019
Short stature
CUI: C0349588
Disease: Short stature
292 0.807 0.200 6 43050050 stop gained C/T snv 0.700 1.000 1 2019 2019
Short thorax
CUI: C0426789
Disease: Short thorax
8 0.807 0.200 6 43050050 stop gained C/T snv 0.700 1.000 1 2019 2019
Triangular face
CUI: C1835884
Disease: Triangular face
16 0.807 0.200 6 43050050 stop gained C/T snv 0.700 1.000 1 2019 2019