rs146278035, ADGRG1

N. diseases: 4
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.
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.925 0.080 16 57651421 stop gained C/T snv 4.0E-06 7.0E-06 0.700 1.000 10 2003 2015
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
247 0.925 0.080 16 57651421 stop gained C/T snv 4.0E-06 7.0E-06 0.700 1.000 10 2003 2015
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.925 0.080 16 57651421 stop gained C/T snv 4.0E-06 7.0E-06 0.700 1.000 10 2003 2015
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL
CUI: C1847352
Disease: POLYMICROGYRIA, BILATERAL FRONTOPARIETAL
26 0.925 0.080 16 57651421 stop gained C/T snv 4.0E-06 7.0E-06 0.700 0