rs1567782714, ADGRG1

N. diseases: 5
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.
Abnormal cortical gyration
CUI: C1856019
Disease: Abnormal cortical gyration
12 0.882 0.120 16 57655528 stop gained C/T snv 0.700 0
Cerebral white matter hypoplasia
CUI: C4022908
Disease: Cerebral white matter hypoplasia
3 0.882 0.120 16 57655528 stop gained C/T snv 0.700 0
Congenital muscular dystrophy (disorder)
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
20 0.882 0.120 16 57655528 stop gained C/T snv 0.700 0
Polymicrogyria
CUI: C0266464
Disease: Polymicrogyria
29 0.882 0.120 16 57655528 stop gained C/T snv 0.700 0
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL
CUI: C1847352
Disease: POLYMICROGYRIA, BILATERAL FRONTOPARIETAL
26 0.882 0.120 16 57655528 stop gained C/T snv 0.700 0