rs545986367, CSTB

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 0.882 0.080 21 43774690 stop gained G/A snv 3.2E-05 7.0E-06 0.700 1.000 8 2002 2017
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
247 0.882 0.080 21 43774690 stop gained G/A snv 3.2E-05 7.0E-06 0.700 1.000 8 2002 2017
Myoclonic Epilepsies, Progressive
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
17 0.882 0.080 21 43774690 stop gained G/A snv 3.2E-05 7.0E-06 0.700 1.000 3 1996 2016
Unverricht-Lundborg Syndrome
CUI: C0751785
Disease: Unverricht-Lundborg Syndrome
17 0.882 0.080 21 43774690 stop gained G/A snv 3.2E-05 7.0E-06 0.700 0