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: rs386833599
rs386833599
OAT
2 1.000 0.080 10 124412013 frameshift variant G/- del 4.0E-06 0.700 1.000 2 1992 2017
dbSNP: rs767965207
rs767965207
OAT
1 10 124400877 frameshift variant T/- delins 0.010 1.000 1 2005 2005
dbSNP: rs121965035
rs121965035
OAT
1 10 124405532 inframe deletion CAG/- delins 0.700 0
dbSNP: rs386833594
rs386833594
OAT
1 10 124400968 frameshift variant T/- delins 0.700 0
dbSNP: rs386833606
rs386833606
OAT
1 10 124408790 inframe deletion CTC/- delins 0.700 0
dbSNP: rs386833607
rs386833607
OAT
1 10 124408783 frameshift variant -/A delins 8.0E-06 0.700 0
dbSNP: rs386833609
rs386833609
OAT
1 10 124408633 splice acceptor variant CTCCTATCA/- delins 0.700 0
dbSNP: rs386833611
rs386833611
OAT
1 10 124408576 inframe deletion TTCACGGTATAGCCC/- delins 0.700 0
dbSNP: rs386833612
rs386833612
OAT
1 10 124405547 frameshift variant CCCCA/- delins 0.700 0
dbSNP: rs386833620
rs386833620
OAT
1 10 124401788 frameshift variant C/- delins 0.700 0
dbSNP: rs121965044
rs121965044
OAT
2 1.000 0.080 10 124398012 missense variant G/A snv 2.0E-05 4.9E-05 0.700 1.000 3 1992 2013
dbSNP: rs121965056
rs121965056
OAT
1 10 124405457 stop gained A/G;T snv 4.0E-06; 1.6E-05 0.700 1.000 2 1992 2017
dbSNP: rs104894429
rs104894429
SLC25A15 ; TPTE2P5
2 1.000 0.160 13 40807376 stop gained C/T snv 6.8E-05 4.9E-05 0.010 1.000 1 2000 2000
dbSNP: rs121965043
rs121965043
OAT
2 1.000 0.080 10 124398057 missense variant A/C;G snv 4.0E-06; 2.7E-04 0.710 1.000 1 2001 2001
dbSNP: rs121965047
rs121965047
OAT
3 0.925 0.080 10 124401746 missense variant C/T snv 4.0E-06 0.710 1.000 1 2018 2018
dbSNP: rs202247806
rs202247806
SLC25A15
3 1.000 0.160 13 40793270 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs386833616
rs386833616
OAT
1 10 124403859 missense variant C/T snv 4.0E-06 0.710 1.000 1 2005 2005
dbSNP: rs765136006
rs765136006
ORC1
2 1 52402180 missense variant G/A snv 2.0E-05 0.010 1.000 1 2014 2014
dbSNP: rs121965034
rs121965034
OAT
1 10 124412169 start lost C/T snv 0.700 0
dbSNP: rs121965036
rs121965036
OAT
1 10 124398076 stop gained G/A;C snv 4.0E-06 0.700 0
dbSNP: rs121965037
rs121965037
OAT
2 1.000 0.080 10 124412009 missense variant A/G snv 7.0E-06 0.700 0
dbSNP: rs121965038
rs121965038
OAT
2 1.000 0.080 10 124408887 missense variant C/A snv 0.700 0
dbSNP: rs121965039
rs121965039
OAT
6 0.851 0.160 10 124408601 missense variant C/A;T snv 8.0E-06 0.700 0
dbSNP: rs121965040
rs121965040
OAT
2 1.000 0.080 10 124405545 missense variant C/G snv 7.2E-05 7.7E-05 0.700 0
dbSNP: rs121965041
rs121965041
OAT
2 1.000 0.080 10 124403019 missense variant C/G snv 0.700 0