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: rs386833602
rs386833602
OAT
2 1.000 0.080 10 124408898 missense variant G/T snv 0.700 1.000 7 1988 2013
dbSNP: rs386833604
rs386833604
OAT
2 1.000 0.080 10 124408854 missense variant T/C snv 0.700 1.000 7 1988 2013
dbSNP: rs121965057
rs121965057
OAT
2 1.000 0.080 10 124402930 stop gained G/C snv 1.6E-05 2.8E-05 0.700 1.000 2 1992 2012
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: rs773729673
rs773729673
OAT
1 1.000 0.080 10 124408917 missense variant C/T snv 0.010 1.000 1 2019 2019