rs786205645, NEK1

N. diseases: 9
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 gingiva
CUI: C4021816
Disease: Abnormality of the gingiva
1 0.827 0.160 4 169508827 frameshift variant TA/- delins 0.700 0
Asphyxiating Thoracic Dystrophy 1
CUI: C4551856
Disease: Asphyxiating Thoracic Dystrophy 1
11 0.827 0.160 4 169508827 frameshift variant TA/- delins 0.700 0
Bifid tongue
CUI: C0266111
Disease: Bifid tongue
1 0.827 0.160 4 169508827 frameshift variant TA/- delins 0.700 0
Dextrocardia
CUI: C0011813
Disease: Dextrocardia
6 0.827 0.160 4 169508827 frameshift variant TA/- delins 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.827 0.160 4 169508827 frameshift variant TA/- delins 0.700 0
Hypoplastic pelvis
CUI: C3536734
Disease: Hypoplastic pelvis
2 0.827 0.160 4 169508827 frameshift variant TA/- delins 0.700 0
Narrow thorax
CUI: C0426790
Disease: Narrow thorax
18 0.827 0.160 4 169508827 frameshift variant TA/- delins 0.700 0
Natal Teeth
CUI: C0027443
Disease: Natal Teeth
2 0.827 0.160 4 169508827 frameshift variant TA/- delins 0.700 0
Normal kidneys
CUI: C1864785
Disease: Normal kidneys
3 0.827 0.160 4 169508827 frameshift variant TA/- delins 0.700 0