rs1561898352, CUL7;KLC4

N. diseases: 8
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.
Joint hyperflexibility
CUI: C3553764
Disease: Joint hyperflexibility
12 0.882 0.200 6 43052582 frameshift variant -/A delins 0.700 1.000 1 2019 2019
Long narrow head
CUI: C0221358
Disease: Long narrow head
26 0.882 0.200 6 43052582 frameshift variant -/A delins 0.700 1.000 1 2019 2019
Lordosis
CUI: C0024003
Disease: Lordosis
15 0.882 0.200 6 43052582 frameshift variant -/A delins 0.700 1.000 1 2019 2019
Miller-McKusick-Malvaux-Syndrome (3M Syndrome)
11 0.882 0.200 6 43052582 frameshift variant -/A delins 0.700 1.000 1 2019 2019
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
135 0.882 0.200 6 43052582 frameshift variant -/A delins 0.700 1.000 1 2019 2019
Short neck
CUI: C0521525
Disease: Short neck
29 0.882 0.200 6 43052582 frameshift variant -/A delins 0.700 1.000 1 2019 2019
Short thorax
CUI: C0426789
Disease: Short thorax
8 0.882 0.200 6 43052582 frameshift variant -/A delins 0.700 1.000 1 2019 2019
Triangular face
CUI: C1835884
Disease: Triangular face
16 0.882 0.200 6 43052582 frameshift variant -/A delins 0.700 1.000 1 2019 2019