rs879253747, ARID1B

N. diseases: 6
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 0.925 0.240 6 157167101 stop gained C/T snv 0.700 0
Blepharophimosis
CUI: C0005744
Disease: Blepharophimosis
15 0.925 0.240 6 157167101 stop gained C/T snv 0.700 0
Long eyelashes
CUI: C1853738
Disease: Long eyelashes
17 0.925 0.240 6 157167101 stop gained C/T snv 0.700 0
Moderate intellectual disability
CUI: C0026351
Disease: Moderate intellectual disability
94 0.925 0.240 6 157167101 stop gained C/T snv 0.700 0
Thick lower lip vermilion
CUI: C1839739
Disease: Thick lower lip vermilion
10 0.925 0.240 6 157167101 stop gained C/T snv 0.700 0
Thin upper lip vermilion
CUI: C1865017
Disease: Thin upper lip vermilion
25 0.925 0.240 6 157167101 stop gained C/T snv 0.700 0