Source: CLINVAR

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: rs137853052
rs137853052
RAB3GAP1 ; ZRANB3
1.000 0.320 2 135150456 stop gained C/G;T snv 4.0E-06
CUI: C1838625
Disease: Warburg Sjo Fledelius syndrome
Warburg Sjo Fledelius syndrome 		0.700 0
dbSNP: rs1553450718
rs1553450718
RAB3GAP1 ; ZRANB3
1.000 0.320 2 135168700 frameshift variant -/TTCT ins
CUI: C1838625
Disease: Warburg Sjo Fledelius syndrome
Warburg Sjo Fledelius syndrome 		0.700 0
dbSNP: rs1558805900
rs1558805900
RAB3GAP1 ; ZRANB3
1.000 0.320 2 135162986 stop gained G/T snv
CUI: C1838625
Disease: Warburg Sjo Fledelius syndrome
Warburg Sjo Fledelius syndrome 		0.700 0
dbSNP: rs587777153
rs587777153
RAB3GAP1 ; ZRANB3
1.000 0.320 2 135150477 frameshift variant -/GCTCTCAGATATGGAGTCT delins
CUI: C1838625
Disease: Warburg Sjo Fledelius syndrome
Warburg Sjo Fledelius syndrome 		0.700 0
dbSNP: rs730882182
rs730882182
RAB3GAP1 ; ZRANB3
1.000 0.320 2 135168632 frameshift variant C/- delins
CUI: C1838625
Disease: Warburg Sjo Fledelius syndrome
Warburg Sjo Fledelius syndrome 		0.700 0
dbSNP: rs797045905
rs797045905
RAB3GAP1 ; ZRANB3
0.851 0.360 2 135164629 stop gained T/G snv
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 0
dbSNP: rs797045905
rs797045905
RAB3GAP1 ; ZRANB3
0.851 0.360 2 135164629 stop gained T/G snv
CUI: C0266544
Disease: Microcornea
Microcornea 		0.700 0
dbSNP: rs797045905
rs797045905
RAB3GAP1 ; ZRANB3
0.851 0.360 2 135164629 stop gained T/G snv
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.700 0
dbSNP: rs797045905
rs797045905
RAB3GAP1 ; ZRANB3
0.851 0.360 2 135164629 stop gained T/G snv
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		0.700 0
dbSNP: rs797045905
rs797045905
RAB3GAP1 ; ZRANB3
0.851 0.360 2 135164629 stop gained T/G snv
CUI: C1838625
Disease: Warburg Sjo Fledelius syndrome
Warburg Sjo Fledelius syndrome 		0.700 0