DOCK6, dedicator of cytokinesis 6, 57572

N. diseases: 84; N. variants: 27
Disease: ADAMS-OLIVER SYNDROME 2 ×
Source: ALL
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: rs200472954
rs200472954 		1.000 19 11213198 missense variant C/T snv 1.7E-04 1.5E-04
CUI: C3280182
Disease: ADAMS-OLIVER SYNDROME 2
ADAMS-OLIVER SYNDROME 2 		0.700 1.000 1 2011 2011
dbSNP: rs1555826472
rs1555826472 		1.000 19 11209027 frameshift variant TCCGC/- delins
CUI: C3280182
Disease: ADAMS-OLIVER SYNDROME 2
ADAMS-OLIVER SYNDROME 2 		0.700 0
dbSNP: rs201387914
rs201387914 		1.000 19 11200714 splice donor variant A/C;G snv 4.1E-06; 2.1E-04
CUI: C3280182
Disease: ADAMS-OLIVER SYNDROME 2
ADAMS-OLIVER SYNDROME 2 		0.700 0
dbSNP: rs397509398
rs397509398 		1.000 19 11235631 frameshift variant -/A delins 3.0E-05
CUI: C3280182
Disease: ADAMS-OLIVER SYNDROME 2
ADAMS-OLIVER SYNDROME 2 		0.700 0
dbSNP: rs397509399
rs397509399 		1.000 19 11214650 splice acceptor variant C/G snv
CUI: C3280182
Disease: ADAMS-OLIVER SYNDROME 2
ADAMS-OLIVER SYNDROME 2 		0.700 0
dbSNP: rs730882238
rs730882238 		0.925 0.080 19 11243279 frameshift variant TTAG/- delins 9.8E-05
CUI: C3280182
Disease: ADAMS-OLIVER SYNDROME 2
ADAMS-OLIVER SYNDROME 2 		0.700 0
dbSNP: rs774877657
rs774877657 		1.000 19 11222821 missense variant C/G;T snv 4.6E-06; 9.1E-06
CUI: C3280182
Disease: ADAMS-OLIVER SYNDROME 2
ADAMS-OLIVER SYNDROME 2 		0.700 0
dbSNP: rs879255610
rs879255610 		1.000 19 11248084 missense variant A/T snv
CUI: C3280182
Disease: ADAMS-OLIVER SYNDROME 2
ADAMS-OLIVER SYNDROME 2 		0.700 0