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: rs121434310
rs121434310 		1.000 0.240 1 220164733 missense variant C/A snv
CUI: C0796037
Disease: Martsolf syndrome
Martsolf syndrome 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 1 2006 2006
dbSNP: rs1553275644
rs1553275644 		1 220182355 splice acceptor variant C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 6 2006 2014
dbSNP: rs587777167
rs587777167 		0.925 0.240 1 220191279 missense variant G/A snv 1.6E-05 7.3E-06
CUI: C0796037
Disease: Martsolf syndrome
Martsolf syndrome 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 2 2013 2014
dbSNP: rs1553278569
rs1553278569 		1.000 1 220210804 inframe deletion AGTGTAGAA/- del
CUI: C3280214
Disease: WARBURG MICRO SYNDROME 2
WARBURG MICRO SYNDROME 2 		0.700 1.000 1 2011 2011
dbSNP: rs587777167
rs587777167 		0.925 0.240 1 220191279 missense variant G/A snv 1.6E-05 7.3E-06
CUI: C3280214
Disease: WARBURG MICRO SYNDROME 2
WARBURG MICRO SYNDROME 2 		0.700 1.000 1 2013 2013
dbSNP: rs797045103
rs797045103 		1.000 1 220202376 splice acceptor variant T/C snv 7.0E-05
CUI: C3280214
Disease: WARBURG MICRO SYNDROME 2
WARBURG MICRO SYNDROME 2 		0.700 1.000 1 2013 2013
dbSNP: rs1553275687
rs1553275687 		1.000 1 220182722 frameshift variant -/G delins
CUI: C3280214
Disease: WARBURG MICRO SYNDROME 2
WARBURG MICRO SYNDROME 2 		0.700 0
dbSNP: rs587777168
rs587777168 		1.000 1 220191121 stop gained C/T snv
CUI: C3280214
Disease: WARBURG MICRO SYNDROME 2
WARBURG MICRO SYNDROME 2 		0.700 0
dbSNP: rs587777169
rs587777169 		1.000 1 220153976 stop gained G/A;C snv 8.0E-06; 4.0E-06
CUI: C3280214
Disease: WARBURG MICRO SYNDROME 2
WARBURG MICRO SYNDROME 2 		0.700 0
dbSNP: rs587777170
rs587777170 		1.000 1 220167295 stop gained C/A snv
CUI: C3280214
Disease: WARBURG MICRO SYNDROME 2
WARBURG MICRO SYNDROME 2 		0.700 0