Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1085307068
rs1085307068
GORAB
1 1.000 0.160 1 170539555 frameshift variant GA/- delins 0.700 1.000 1 2008 2008
dbSNP: rs1557999318
rs1557999318
GORAB ; GORAB-AS1
1 1.000 0.160 1 170532148 start lost GA/CT mnv 0.700 1.000 1 2008 2008
dbSNP: rs119455951
rs119455951
GORAB
1 1.000 0.160 1 170539515 stop gained G/A;T snv 1.2E-05 0.700 0
dbSNP: rs119455952
rs119455952
GORAB
1 1.000 0.160 1 170552136 stop gained C/T snv 1.2E-05 0.700 0
dbSNP: rs183596463
rs183596463
GORAB
1 1.000 0.160 1 170544841 missense variant G/A;C;T snv 2.4E-05 0.700 0
dbSNP: rs749490786
rs749490786
GORAB
1 1.000 0.160 1 170544832 missense variant T/C snv 6.0E-05 7.0E-06 0.700 0