Source: CURATED

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: rs119466000
rs119466000
LRPPRC
1.000 0.120 2 43974244 missense variant G/A snv 5.6E-05 7.0E-06
CUI: C1857355
Disease: Leigh syndrome , French Canadian type
Leigh syndrome , French Canadian type 		0.810 1.000 3 2003 2011
dbSNP: rs1136998
rs1136998
LRPPRC
2 43888044 3 prime UTR variant T/A;C snv
CUI: C0037369
Disease: Smoking
Smoking 		0.700 1.000 1 2019 2019
dbSNP: rs1558936154
rs1558936154
LRPPRC
1.000 0.120 2 43918043 stop gained G/A snv
CUI: C1857355
Disease: Leigh syndrome , French Canadian type
Leigh syndrome , French Canadian type 		0.700 1.000 1 2019 2019
dbSNP: rs2955280
rs2955280
LRPPRC
2 43889697 intron variant C/A;G;T snv 0.59
CUI: C0021704
Disease: Intelligence
Intelligence 		0.700 1.000 1 2018 2018
dbSNP: rs1060499785
rs1060499785
LRPPRC
1.000 0.120 2 43979825 splice donor variant C/T snv
CUI: C1857355
Disease: Leigh syndrome , French Canadian type
Leigh syndrome , French Canadian type 		0.700 0
dbSNP: rs1160846305
rs1160846305
LRPPRC
1.000 0.120 2 43995946 start lost A/C;T snv 8.3E-06
CUI: C1857355
Disease: Leigh syndrome , French Canadian type
Leigh syndrome , French Canadian type 		0.700 0
dbSNP: rs1166980943
rs1166980943
LRPPRC
1.000 0.120 2 43925943 stop gained G/A snv 4.0E-06 7.0E-06
CUI: C1857355
Disease: Leigh syndrome , French Canadian type
Leigh syndrome , French Canadian type 		0.700 0
dbSNP: rs1202515342
rs1202515342
LRPPRC
1.000 0.120 2 43918128 stop gained C/A;T snv 4.0E-06
CUI: C1857355
Disease: Leigh syndrome , French Canadian type
Leigh syndrome , French Canadian type 		0.700 0
dbSNP: rs1249427615
rs1249427615
LRPPRC
1.000 0.120 2 43976993 splice donor variant C/G;T snv 4.0E-06
CUI: C1857355
Disease: Leigh syndrome , French Canadian type
Leigh syndrome , French Canadian type 		0.700 0
dbSNP: rs1300725076
rs1300725076
LRPPRC
1.000 0.120 2 43918289 frameshift variant CTCT/- delins 4.0E-06
CUI: C1857355
Disease: Leigh syndrome , French Canadian type
Leigh syndrome , French Canadian type 		0.700 0
dbSNP: rs1301842578
rs1301842578
LRPPRC
1.000 0.120 2 43943741 stop gained A/T snv
CUI: C1857355
Disease: Leigh syndrome , French Canadian type
Leigh syndrome , French Canadian type 		0.700 0
dbSNP: rs1453934366
rs1453934366
LRPPRC
1.000 0.120 2 43982330 stop gained C/T snv 4.0E-06; 4.0E-06 7.0E-06
CUI: C1857355
Disease: Leigh syndrome , French Canadian type
Leigh syndrome , French Canadian type 		0.700 0
dbSNP: rs1475772376
rs1475772376
LRPPRC
1.000 0.120 2 43889733 splice donor variant C/T snv 1.4E-05
CUI: C1857355
Disease: Leigh syndrome , French Canadian type
Leigh syndrome , French Canadian type 		0.700 0
dbSNP: rs1553388067
rs1553388067
LRPPRC
1.000 0.120 2 43889732 splice donor variant A/C snv
CUI: C1857355
Disease: Leigh syndrome , French Canadian type
Leigh syndrome , French Canadian type 		0.700 0
dbSNP: rs1553391303
rs1553391303
LRPPRC
1.000 0.120 2 43899499 frameshift variant ACTT/- delins
CUI: C1857355
Disease: Leigh syndrome , French Canadian type
Leigh syndrome , French Canadian type 		0.700 0
dbSNP: rs1553396232
rs1553396232
LRPPRC
1.000 0.120 2 43918311 stop gained A/C snv
CUI: C1857355
Disease: Leigh syndrome , French Canadian type
Leigh syndrome , French Canadian type 		0.700 0
dbSNP: rs1553398334
rs1553398334
LRPPRC
1.000 0.120 2 43925962 splice acceptor variant C/A snv
CUI: C1857355
Disease: Leigh syndrome , French Canadian type
Leigh syndrome , French Canadian type 		0.700 0
dbSNP: rs1553400391
rs1553400391
LRPPRC
1.000 0.120 2 43934189 splice donor variant C/A snv
CUI: C1857355
Disease: Leigh syndrome , French Canadian type
Leigh syndrome , French Canadian type 		0.700 0
dbSNP: rs1553400685
rs1553400685
LRPPRC
1.000 0.120 2 43934825 frameshift variant TTATACTTTTCATA/- del
CUI: C1857355
Disease: Leigh syndrome , French Canadian type
Leigh syndrome , French Canadian type 		0.700 0
dbSNP: rs1553400727
rs1553400727
LRPPRC
1.000 0.120 2 43934879 splice acceptor variant C/A snv
CUI: C1857355
Disease: Leigh syndrome , French Canadian type
Leigh syndrome , French Canadian type 		0.700 0
dbSNP: rs1553403303
rs1553403303
LRPPRC
1.000 0.120 2 43945331 splice donor variant C/T snv
CUI: C1857355
Disease: Leigh syndrome , French Canadian type
Leigh syndrome , French Canadian type 		0.700 0
dbSNP: rs1553403596
rs1553403596
LRPPRC
1.000 0.120 2 43946244 splice acceptor variant C/G snv
CUI: C1857355
Disease: Leigh syndrome , French Canadian type
Leigh syndrome , French Canadian type 		0.700 0
dbSNP: rs1553403879
rs1553403879
LRPPRC
1.000 0.120 2 43947365 frameshift variant CA/- delins
CUI: C1857355
Disease: Leigh syndrome , French Canadian type
Leigh syndrome , French Canadian type 		0.700 0
dbSNP: rs1553404194
rs1553404194
LRPPRC
1.000 0.120 2 43948410 splice donor variant A/T snv
CUI: C1857355
Disease: Leigh syndrome , French Canadian type
Leigh syndrome , French Canadian type 		0.700 0
dbSNP: rs1553406772
rs1553406772
LRPPRC
1.000 0.120 2 43957422 stop gained G/A snv
CUI: C1857355
Disease: Leigh syndrome , French Canadian type
Leigh syndrome , French Canadian type 		0.700 0