rs751375244, TRAPPC3

N. diseases: 6
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.
Bardet-Biedl Syndrome
CUI: C0752166
Disease: Bardet-Biedl Syndrome
163 0.827 0.280 1 36139776 missense variant G/A snv 1.2E-05 3.5E-05 0.700 0
Diastrophic dysplasia
CUI: C0220726
Disease: Diastrophic dysplasia
63 0.827 0.280 1 36139776 missense variant G/A snv 1.2E-05 3.5E-05 0.700 0
Keratosis Follicularis
CUI: C0022595
Disease: Keratosis Follicularis
21 0.827 0.280 1 36139776 missense variant G/A snv 1.2E-05 3.5E-05 0.700 0
Low Vision
CUI: C0042798
Disease: Low Vision
51 0.827 0.280 1 36139776 missense variant G/A snv 1.2E-05 3.5E-05 0.700 0
Melanocortin 4 Receptor Deficiency
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
28 0.827 0.280 1 36139776 missense variant G/A snv 1.2E-05 3.5E-05 0.700 0
Polydactyly
CUI: C0152427
Disease: Polydactyly
43 0.827 0.280 1 36139776 missense variant G/A snv 1.2E-05 3.5E-05 0.700 0