Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1561873941
rs1561873941
CUL7
0.925 0.200 6 43040335 frameshift variant T/- del
CUI: C0521525
Disease: Short neck
Short neck 		0.700 1.000 1 2019 2019
dbSNP: rs1561881909
rs1561881909
CUL7 ; KLC4
0.925 0.200 6 43044835 frameshift variant G/- delins
CUI: C0521525
Disease: Short neck
Short neck 		0.700 1.000 1 2019 2019
dbSNP: rs1561898352
rs1561898352
CUL7 ; KLC4
0.882 0.200 6 43052582 frameshift variant -/A delins
CUI: C0521525
Disease: Short neck
Short neck 		0.700 1.000 1 2019 2019
dbSNP: rs760929207
rs760929207
OBSL1
0.925 0.200 2 219568050 splice donor variant ACCTTTGACTG/- delins 8.1E-06 7.0E-06
CUI: C0521525
Disease: Short neck
Short neck 		0.700 1.000 1 2019 2019