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.
Anosmia
CUI: C0003126
Disease: Anosmia
4 0.851 0.160 22 37973687 frameshift variant AGTAG/- delins 0.700 0
Chronic constipation
CUI: C0401149
Disease: Chronic constipation
16 0.851 0.160 22 37973687 frameshift variant AGTAG/- delins 0.700 0
Demyelinating sensory neuropathy
CUI: C4023373
Disease: Demyelinating sensory neuropathy
1 0.851 0.160 22 37973687 frameshift variant AGTAG/- delins 0.700 0
Hypoplasia of the olfactory bulb
CUI: C4477049
Disease: Hypoplasia of the olfactory bulb
1 0.851 0.160 22 37973687 frameshift variant AGTAG/- delins 0.700 0
Megacolon
CUI: C0025160
Disease: Megacolon
9 0.851 0.160 22 37973687 frameshift variant AGTAG/- delins 0.700 0
Morphological abnormality of the inner ear
CUI: C4023381
Disease: Morphological abnormality of the inner ear
1 0.851 0.160 22 37973687 frameshift variant AGTAG/- delins 0.700 0
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
77 0.851 0.160 22 37973687 frameshift variant AGTAG/- delins 0.700 0
Peripheral demyelinating neuropathy
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
14 0.851 0.160 22 37973687 frameshift variant AGTAG/- delins 0.700 0
Waardenburg Syndrome, Type 4c
CUI: C2750452
Disease: Waardenburg Syndrome, Type 4c
22 0.851 0.160 22 37973687 frameshift variant AGTAG/- delins 0.700 0