rs1568359734, ASXL3

N. diseases: 8
Source: CLINVAR ×
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.
Abnormality of the columella
CUI: C4024158
Disease: Abnormality of the columella
2 0.827 0.240 18 33738903 frameshift variant A/- delins 0.700 0
BAINBRIDGE-ROPERS SYNDROME
CUI: C3809650
Disease: BAINBRIDGE-ROPERS SYNDROME
17 0.827 0.240 18 33738903 frameshift variant A/- delins 0.700 0
Cafe-au-Lait Spots
CUI: C0221263
Disease: Cafe-au-Lait Spots
32 0.827 0.240 18 33738903 frameshift variant A/- delins 0.700 0
Esotropia
CUI: C0014877
Disease: Esotropia
38 0.827 0.240 18 33738903 frameshift variant A/- delins 0.700 0
Expressive language delay
CUI: C0454641
Disease: Expressive language delay
25 0.827 0.240 18 33738903 frameshift variant A/- delins 0.700 0
Kyphosis deformity of spine
CUI: C0022821
Disease: Kyphosis deformity of spine
10 0.827 0.240 18 33738903 frameshift variant A/- delins 0.700 0
Moderate intellectual disability
CUI: C0026351
Disease: Moderate intellectual disability
93 0.827 0.240 18 33738903 frameshift variant A/- delins 0.700 0
Overbite
CUI: C1305740
Disease: Overbite
5 0.827 0.240 18 33738903 frameshift variant A/- delins 0.700 0