rs1566785444, IRF2BPL

N. diseases: 20
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.
Congenital dermal melanocytosis
CUI: C4020699
Disease: Congenital dermal melanocytosis
3 0.827 0.200 14 77025671 frameshift variant C/- delins 0.700 0
Facial hypotonia
CUI: C1845251
Disease: Facial hypotonia
6 0.827 0.200 14 77025671 frameshift variant C/- delins 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.827 0.200 14 77025671 frameshift variant C/- delins 0.700 0
Hyperactive behavior
CUI: C0424295
Disease: Hyperactive behavior
112 0.827 0.200 14 77025671 frameshift variant C/- delins 0.700 0
Hyperphagia
CUI: C0020505
Disease: Hyperphagia
3 0.827 0.200 14 77025671 frameshift variant C/- delins 0.700 0
Hypertrichosis
CUI: C0020555
Disease: Hypertrichosis
27 0.827 0.200 14 77025671 frameshift variant C/- delins 0.700 0
Hypoplastic finger
CUI: C1844548
Disease: Hypoplastic finger
3 0.827 0.200 14 77025671 frameshift variant C/- delins 0.700 0
Long eyelashes
CUI: C1853738
Disease: Long eyelashes
17 0.827 0.200 14 77025671 frameshift variant C/- delins 0.700 0
Long face
CUI: C1836047
Disease: Long face
12 0.827 0.200 14 77025671 frameshift variant C/- delins 0.700 0
Long palm
CUI: C4023422
Disease: Long palm
2 0.827 0.200 14 77025671 frameshift variant C/- delins 0.700 0
Low anterior hairline
CUI: C1842366
Disease: Low anterior hairline
17 0.827 0.200 14 77025671 frameshift variant C/- delins 0.700 0
Micrognathism
CUI: C0025990
Disease: Micrognathism
53 0.827 0.200 14 77025671 frameshift variant C/- delins 0.700 0
Moderate global developmental delay
CUI: C2237142
Disease: Moderate global developmental delay
21 0.827 0.200 14 77025671 frameshift variant C/- delins 0.700 0
Muscle Weakness
CUI: C0151786
Disease: Muscle Weakness
87 0.827 0.200 14 77025671 frameshift variant C/- delins 0.700 0
Myopia
CUI: C0027092
Disease: Myopia
167 0.827 0.200 14 77025671 frameshift variant C/- delins 0.700 0
Narrow face
CUI: C1837463
Disease: Narrow face
6 0.827 0.200 14 77025671 frameshift variant C/- delins 0.700 0
Overbite
CUI: C1305740
Disease: Overbite
5 0.827 0.200 14 77025671 frameshift variant C/- delins 0.700 0
Overfolding of the superior helices
CUI: C1865304
Disease: Overfolding of the superior helices
7 0.827 0.200 14 77025671 frameshift variant C/- delins 0.700 0
Single transverse palmar crease
CUI: C0424731
Disease: Single transverse palmar crease
14 0.827 0.200 14 77025671 frameshift variant C/- delins 0.700 0
Ventouse delivery (finding)
CUI: C1456852
Disease: Ventouse delivery (finding)
3 0.827 0.200 14 77025671 frameshift variant C/- delins 0.700 0