rs1561875767, CUL7;KLC4

N. diseases: 14
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.
Bulbous nose
CUI: C0240543
Disease: Bulbous nose
13 1.000 0.200 6 43041036 stop gained G/A snv 0.700 1.000 1 2019 2019
Delayed bone age
CUI: C0541764
Disease: Delayed bone age
14 1.000 0.200 6 43041036 stop gained G/A snv 0.700 1.000 1 2019 2019
Increased vertebral height
CUI: C1864853
Disease: Increased vertebral height
1 1.000 0.200 6 43041036 stop gained G/A snv 0.700 1.000 1 2019 2019
Intrauterine retardation
CUI: C1386048
Disease: Intrauterine retardation
56 1.000 0.200 6 43041036 stop gained G/A snv 0.700 1.000 1 2019 2019
Joint hyperflexibility
CUI: C3553764
Disease: Joint hyperflexibility
12 1.000 0.200 6 43041036 stop gained G/A snv 0.700 1.000 1 2019 2019
Lordosis
CUI: C0024003
Disease: Lordosis
15 1.000 0.200 6 43041036 stop gained G/A snv 0.700 1.000 1 2019 2019
Miller-McKusick-Malvaux-Syndrome (3M Syndrome)
CUI: C1848862
Disease: Miller-McKusick-Malvaux-Syndrome (3M Syndrome)
11 1.000 0.200 6 43041036 stop gained G/A snv 0.700 1.000 1 2019 2019
Pointed chin
CUI: C1844505
Disease: Pointed chin
13 1.000 0.200 6 43041036 stop gained G/A snv 0.700 1.000 1 2019 2019
Short stature
CUI: C0349588
Disease: Short stature
292 1.000 0.200 6 43041036 stop gained G/A snv 0.700 1.000 1 2019 2019
Short thorax
CUI: C0426789
Disease: Short thorax
8 1.000 0.200 6 43041036 stop gained G/A snv 0.700 1.000 1 2019 2019
Slender long bone
CUI: C1833144
Disease: Slender long bone
5 1.000 0.200 6 43041036 stop gained G/A snv 0.700 1.000 1 2019 2019
Small midface
CUI: C2673410
Disease: Small midface
24 1.000 0.200 6 43041036 stop gained G/A snv 0.700 1.000 1 2019 2019
Thin rib
CUI: C0426818
Disease: Thin rib
1 1.000 0.200 6 43041036 stop gained G/A snv 0.700 1.000 1 2019 2019
Triangular face
CUI: C1835884
Disease: Triangular face
16 1.000 0.200 6 43041036 stop gained G/A snv 0.700 1.000 1 2019 2019