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: rs869312741
rs869312741
0.882 0.080 19 43747509 frameshift variant GG/- delins
CUI: C1855677
Disease: Brainstem dysplasia
Brainstem dysplasia
0.700 1.000 1 2016 2016
dbSNP: rs869312742
rs869312742
0.882 0.080 19 43744768 splice region variant T/C snv
CUI: C1855677
Disease: Brainstem dysplasia
Brainstem dysplasia
0.700 1.000 1 2016 2016