rs1057518848, TCF4

N. diseases: 15
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.
Absent speech
CUI: C1854882
Disease: Absent speech
72 0.827 0.240 18 55229003 frameshift variant -/ATTG delins 0.700 0
Broad-based gait
CUI: C0856863
Disease: Broad-based gait
24 0.827 0.240 18 55229003 frameshift variant -/ATTG delins 0.700 0
Cerebral hypoplasia
CUI: C1855330
Disease: Cerebral hypoplasia
4 0.827 0.240 18 55229003 frameshift variant -/ATTG delins 0.700 0
Drooping nasal tip
CUI: C0426430
Disease: Drooping nasal tip
1 0.827 0.240 18 55229003 frameshift variant -/ATTG delins 0.700 0
Exaggerated cupid's bow
CUI: C1850629
Disease: Exaggerated cupid's bow
6 0.827 0.240 18 55229003 frameshift variant -/ATTG delins 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.827 0.240 18 55229003 frameshift variant -/ATTG delins 0.700 0
Myopia
CUI: C0027092
Disease: Myopia
167 0.827 0.240 18 55229003 frameshift variant -/ATTG delins 0.700 0
PITT-HOPKINS SYNDROME
CUI: C1970431
Disease: PITT-HOPKINS SYNDROME
58 0.827 0.240 18 55229003 frameshift variant -/ATTG delins 0.700 0
Prominent supraorbital ridges
CUI: C1842060
Disease: Prominent supraorbital ridges
10 0.827 0.240 18 55229003 frameshift variant -/ATTG delins 0.700 0
Severe intellectual disability
CUI: C0036857
Disease: Severe intellectual disability
74 0.827 0.240 18 55229003 frameshift variant -/ATTG delins 0.700 0
Single transverse palmar crease
CUI: C0424731
Disease: Single transverse palmar crease
14 0.827 0.240 18 55229003 frameshift variant -/ATTG delins 0.700 0
Strabismus
CUI: C0038379
Disease: Strabismus
89 0.827 0.240 18 55229003 frameshift variant -/ATTG delins 0.700 0
Sunken eyes
CUI: C0423224
Disease: Sunken eyes
54 0.827 0.240 18 55229003 frameshift variant -/ATTG delins 0.700 0
Tented upper lip vermilion
CUI: C1839767
Disease: Tented upper lip vermilion
8 0.827 0.240 18 55229003 frameshift variant -/ATTG delins 0.700 0
Upward slant of palpebral fissure
CUI: C0423109
Disease: Upward slant of palpebral fissure
16 0.827 0.240 18 55229003 frameshift variant -/ATTG delins 0.700 0