rs1553655558, TRIP12

N. diseases: 43
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.
Abdominal Pain
CUI: C0000737
Disease: Abdominal Pain
18 0.752 0.360 2 229830831 frameshift variant A/- delins 0.700 0
Apnea
CUI: C0003578
Disease: Apnea
11 0.752 0.360 2 229830831 frameshift variant A/- delins 0.700 0
Autistic behavior
CUI: C0856975
Disease: Autistic behavior
78 0.752 0.360 2 229830831 frameshift variant A/- delins 0.700 0
Broad hallux
CUI: C1867131
Disease: Broad hallux
14 0.752 0.360 2 229830831 frameshift variant A/- delins 0.700 0
Broad thumbs
CUI: C0426891
Disease: Broad thumbs
11 0.752 0.360 2 229830831 frameshift variant A/- delins 0.700 0
Broad toe
CUI: C1865038
Disease: Broad toe
2 0.752 0.360 2 229830831 frameshift variant A/- delins 0.700 0
Clinodactyly of the 4th toe
CUI: C4020740
Disease: Clinodactyly of the 4th toe
4 0.752 0.360 2 229830831 frameshift variant A/- delins 0.700 0
Clinodactyly of the 5th toe
CUI: C4025741
Disease: Clinodactyly of the 5th toe
4 0.752 0.360 2 229830831 frameshift variant A/- delins 0.700 0
Constipation
CUI: C0009806
Disease: Constipation
57 0.752 0.360 2 229830831 frameshift variant A/- delins 0.700 0
Decrease in appetite
CUI: C0232462
Disease: Decrease in appetite
7 0.752 0.360 2 229830831 frameshift variant A/- delins 0.700 0
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.752 0.360 2 229830831 frameshift variant A/- delins 0.700 0
Depressed nasal bridge
CUI: C1836542
Disease: Depressed nasal bridge
39 0.752 0.360 2 229830831 frameshift variant A/- delins 0.700 0
Downturned corners of mouth
CUI: C1866195
Disease: Downturned corners of mouth
14 0.752 0.360 2 229830831 frameshift variant A/- delins 0.700 0
Drooling
CUI: C0013132
Disease: Drooling
14 0.752 0.360 2 229830831 frameshift variant A/- delins 0.700 0
Failure to thrive in infancy
CUI: C1867873
Disease: Failure to thrive in infancy
12 0.752 0.360 2 229830831 frameshift variant A/- delins 0.700 0
Fragile nails
CUI: C1856963
Disease: Fragile nails
1 0.752 0.360 2 229830831 frameshift variant A/- delins 0.700 0
Full cheeks
CUI: C1866231
Disease: Full cheeks
4 0.752 0.360 2 229830831 frameshift variant A/- delins 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.752 0.360 2 229830831 frameshift variant A/- delins 0.700 0
Growth delay
CUI: C0456070
Disease: Growth delay
40 0.752 0.360 2 229830831 frameshift variant A/- delins 0.700 0
Head Banging
CUI: C0018672
Disease: Head Banging
3 0.752 0.360 2 229830831 frameshift variant A/- delins 0.700 0
Hoarseness
CUI: C0019825
Disease: Hoarseness
3 0.752 0.360 2 229830831 frameshift variant A/- delins 0.700 0
Hyperreflexia
CUI: C0151889
Disease: Hyperreflexia
19 0.752 0.360 2 229830831 frameshift variant A/- delins 0.700 0
Hypoplastic fifth toenail
CUI: C4023116
Disease: Hypoplastic fifth toenail
4 0.752 0.360 2 229830831 frameshift variant A/- delins 0.700 0
Intrauterine retardation
CUI: C1386048
Disease: Intrauterine retardation
56 0.752 0.360 2 229830831 frameshift variant A/- delins 0.700 0
Meconium ileus
CUI: C2939175
Disease: Meconium ileus
16 0.752 0.360 2 229830831 frameshift variant A/- delins 0.700 0