rs1327062642, TULP1

N. diseases: 11
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 retinal pigmentation
CUI: C1862475
Disease: Abnormality of retinal pigmentation
5 0.827 0.200 6 35509903 frameshift variant -/G delins 4.0E-06 0.700 1.000 1 2017 2017
Amaurosis congenita of Leber, type 1
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
60 0.827 0.200 6 35509903 frameshift variant -/G delins 4.0E-06 0.700 1.000 1 2017 2017
Atrophic macular change
CUI: C0423421
Disease: Atrophic macular change
1 0.827 0.200 6 35509903 frameshift variant -/G delins 4.0E-06 0.700 1.000 1 2017 2017
Atrophoderma maculatum
CUI: C1288283
Disease: Atrophoderma maculatum
2 0.827 0.200 6 35509903 frameshift variant -/G delins 4.0E-06 0.700 1.000 1 2017 2017
Congenital nystagmus
CUI: C0700501
Disease: Congenital nystagmus
5 0.827 0.200 6 35509903 frameshift variant -/G delins 4.0E-06 0.700 1.000 1 2017 2017
Electroretinogram abnormal
CUI: C0476397
Disease: Electroretinogram abnormal
10 0.827 0.200 6 35509903 frameshift variant -/G delins 4.0E-06 0.700 1.000 1 2017 2017
Intrauterine retardation
CUI: C1386048
Disease: Intrauterine retardation
56 0.827 0.200 6 35509903 frameshift variant -/G delins 4.0E-06 0.700 1.000 1 2017 2017
Myopia
CUI: C0027092
Disease: Myopia
167 0.827 0.200 6 35509903 frameshift variant -/G delins 4.0E-06 0.700 1.000 1 2017 2017
Progressive night blindness
CUI: C4024818
Disease: Progressive night blindness
3 0.827 0.200 6 35509903 frameshift variant -/G delins 4.0E-06 0.700 1.000 1 2017 2017
Severe visual impairment
CUI: C1301509
Disease: Severe visual impairment
9 0.827 0.200 6 35509903 frameshift variant -/G delins 4.0E-06 0.700 1.000 1 2017 2017
Small for gestational age (disorder)
CUI: C0235991
Disease: Small for gestational age (disorder)
34 0.827 0.200 6 35509903 frameshift variant -/G delins 4.0E-06 0.700 1.000 1 2017 2017