Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121434410
rs121434410
1.000 0.036 2 178436264 missense variant G/A snp 9.9E-05 9.6E-05
CUI: C2677567
Disease: DYSTONIA 16 (disorder)
DYSTONIA 16 (disorder)
Nervous System Diseases 0.800 2 2008 2015
dbSNP: rs730880307
rs730880307
1.000 0.036 2 178447554 frameshift variant CTA/C in-del 4.0E-06; 4.0E-06
CUI: C2677567
Disease: DYSTONIA 16 (disorder)
DYSTONIA 16 (disorder)
Nervous System Diseases 0.700 1 2008 2008