rs778543124, XPA

N. diseases: 35
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.
Xeroderma pigmentosum, group A
CUI: C0268135
Disease: Xeroderma pigmentosum, group A
55 0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05 0.700 1.000 1 2010 2010
Actinic keratosis
CUI: C0022602
Disease: Actinic keratosis
10 0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05 0.700 0
Apraxias
CUI: C0003635
Disease: Apraxias
9 0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05 0.700 0
Ataxia, Appendicular
CUI: C0750937
Disease: Ataxia, Appendicular
5 0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05 0.700 0
Ataxia, Truncal
CUI: C0427190
Disease: Ataxia, Truncal
13 0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05 0.700 0
Babinski Reflex
CUI: C0034935
Disease: Babinski Reflex
11 0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05 0.700 0
Bradykinesia
CUI: C0233565
Disease: Bradykinesia
16 0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05 0.700 0
Brain atrophy
CUI: C4551584
Disease: Brain atrophy
46 0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05 0.700 0
Carcinoma, Basal Cell
CUI: C4721806
Disease: Carcinoma, Basal Cell
91 0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05 0.700 0
Convergence Insufficiency
CUI: C0271379
Disease: Convergence Insufficiency
4 0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05 0.700 0
Decreased tendon reflex
CUI: C0700078
Disease: Decreased tendon reflex
13 0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05 0.700 0
Decreased vibratory sense
CUI: C1295585
Disease: Decreased vibratory sense
8 0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05 0.700 0
Diplopia
CUI: C0012569
Disease: Diplopia
5 0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05 0.700 0
Dysarthria
CUI: C0013362
Disease: Dysarthria
54 0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05 0.700 0
Dystonia, Limb
CUI: C0751093
Disease: Dystonia, Limb
9 0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05 0.700 0
Exotropia
CUI: C0015310
Disease: Exotropia
23 0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05 0.700 0
Limb dysmetria
CUI: C1854489
Disease: Limb dysmetria
6 0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05 0.700 0
Melanocytic nevus
CUI: C0027962
Disease: Melanocytic nevus
33 0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05 0.700 0
Mental deterioration
CUI: C0234985
Disease: Mental deterioration
121 0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05 0.700 0
Muscle Rigidity
CUI: C0026837
Disease: Muscle Rigidity
25 0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05 0.700 0
Myoclonus
CUI: C0027066
Disease: Myoclonus
34 0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05 0.700 0
Nystagmus, End-Position
CUI: C0271390
Disease: Nystagmus, End-Position
2 0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05 0.700 0
Palmo-Mental Reflex
CUI: C0751470
Disease: Palmo-Mental Reflex
2 0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05 0.700 0
Photosensitivity of skin
CUI: C0349506
Disease: Photosensitivity of skin
3 0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05 0.700 0