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: rs11553554
rs11553554
OAT
1 1.000 0.080 10 124412020 missense variant C/T snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs1554867698
rs1554867698
OAT
1 1.000 0.080 10 124411967 splice donor variant ACGTACCT/TTAA delins 0.700 0
dbSNP: rs1554867854
rs1554867854
OAT
1 1.000 0.080 10 124412119 frameshift variant -/CTCC delins 0.700 0
dbSNP: rs1564737136
rs1564737136
OAT
1 1.000 0.080 10 124408943 splice acceptor variant CTACATCCCATAAGTAAATACCTAAAATACATAAGAAAGGAAAATAATTTTAGACAATT/- delins 0.700 0
dbSNP: rs200068769
rs200068769
OAT
1 1.000 0.080 10 124398070 stop gained G/A snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs386833599
rs386833599
OAT
2 1.000 0.080 10 124412013 frameshift variant G/- del 4.0E-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 0.720 1.000 9 1988 2019
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 8 1988 2013
dbSNP: rs121965047
rs121965047
OAT
3 0.925 0.080 10 124401746 missense variant C/T snv 4.0E-06 0.710 1.000 8 1988 2018
dbSNP: rs386833621
rs386833621
OAT
2 1.000 0.080 10 124401788 missense variant C/T snv 8.0E-06 1.4E-05 0.710 1.000 8 1988 2013
dbSNP: rs121965037
rs121965037
OAT
2 1.000 0.080 10 124412009 missense variant A/G snv 7.0E-06 0.700 1.000 7 1988 2013
dbSNP: rs121965038
rs121965038
OAT
2 1.000 0.080 10 124408887 missense variant C/A snv 0.700 1.000 7 1988 2013
dbSNP: rs121965039
rs121965039
OAT
6 0.851 0.160 10 124408601 missense variant C/A;T snv 8.0E-06 0.700 1.000 7 1988 2013
dbSNP: rs121965041
rs121965041
OAT
2 1.000 0.080 10 124403019 missense variant C/G snv 0.700 1.000 7 1988 2013
dbSNP: rs121965042
rs121965042
OAT
2 1.000 0.080 10 124403015 missense variant C/T snv 0.700 1.000 7 1988 2013
dbSNP: rs121965044
rs121965044
OAT
2 1.000 0.080 10 124398012 missense variant G/A snv 2.0E-05 4.9E-05 0.800 1.000 7 1988 2013
dbSNP: rs121965045
rs121965045
OAT
2 1.000 0.080 10 124400875 missense variant C/G snv 0.700 1.000 7 1988 2013
dbSNP: rs121965046
rs121965046
OAT
2 1.000 0.080 10 124403835 missense variant T/C snv 4.0E-06 1.4E-05 0.700 1.000 7 1988 2013
dbSNP: rs121965048
rs121965048
OAT
2 1.000 0.080 10 124412010 missense variant G/T snv 1.2E-05 1.4E-05 0.700 1.000 7 1988 2013
dbSNP: rs121965049
rs121965049
OAT
2 1.000 0.080 10 124401785 missense variant G/A snv 0.700 1.000 7 1988 2013
dbSNP: rs121965051
rs121965051
OAT
2 1.000 0.080 10 124403847 missense variant G/A;C snv 3.6E-05 0.800 1.000 7 1988 2013
dbSNP: rs121965052
rs121965052
OAT
2 1.000 0.080 10 124403820 missense variant C/G;T snv 4.8E-05 0.700 1.000 7 1988 2013
dbSNP: rs121965053
rs121965053
OAT
2 1.000 0.080 10 124400941 missense variant C/T snv 4.0E-05 7.0E-06 0.700 1.000 7 1988 2013
dbSNP: rs121965054
rs121965054
OAT
2 1.000 0.080 10 124398082 missense variant A/G snv 0.700 1.000 7 1988 2013
dbSNP: rs121965059
rs121965059
OAT
4 0.925 0.080 10 124403892 missense variant G/A snv 1.6E-05 7.0E-06 0.710 1.000 7 1988 2013