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: rs587777016
rs587777016
1.000 1 228175383 missense variant A/C snv
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3
0.800 1.000 1 2013 2013
dbSNP: rs1053773776
rs1053773776
1.000 1 228166132 missense variant A/G;T snv 3.2E-05; 1.6E-05
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3
0.700 0
dbSNP: rs1261081427
rs1261081427
1.000 1 228175139 stop gained C/T snv
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3
0.700 0
dbSNP: rs1298056442
rs1298056442
1.000 1 228166129 missense variant C/A;T snv
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3
0.700 0
dbSNP: rs1553264669
rs1553264669
1.000 1 228174936 missense variant T/G snv
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3
0.700 0
dbSNP: rs1553264725
rs1553264725
1.000 1 228175128 missense variant C/T snv
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3
0.700 0
dbSNP: rs1553264773
rs1553264773
1.000 1 228175382 stop gained C/T snv
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3
0.700 0
dbSNP: rs73095427
rs73095427
1.000 1 228174786 missense variant C/T snv
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3
0.700 0
dbSNP: rs765132163
rs765132163
1.000 1 228165966 stop gained C/A;T snv 5.4E-05 7.0E-05
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3
0.700 0
dbSNP: rs765926471
rs765926471
1.000 1 228166102 missense variant T/C snv
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3
0.700 0
dbSNP: rs769063859
rs769063859
1.000 1 228175148 missense variant C/G;T snv 5.6E-05 1.4E-05
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3
0.700 0
dbSNP: rs781627051
rs781627051
1.000 1 228166139 missense variant A/C;G snv 8.0E-06 7.0E-06
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3
0.700 0
dbSNP: rs876657407
rs876657407
1.000 1 228175028 splice region variant A/G snv
SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE
0.700 0