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: rs397514675
rs397514675
STIM1
1 1.000 0.080 11 3967663 missense variant A/G snv 0.800 1.000 4 2013 2015
dbSNP: rs397514676
rs397514676
STIM1
1 1.000 0.080 11 4023927 missense variant C/A;T snv 4.0E-06 0.800 1.000 4 2013 2015
dbSNP: rs397514677
rs397514677
STIM1
6 0.851 0.400 11 4023928 missense variant A/G snv 0.800 1.000 4 2013 2015
dbSNP: rs397515436
rs397515436
STIM1
1 1.000 0.080 11 3967628 missense variant C/A snv 0.800 1.000 4 2013 2015
dbSNP: rs527236030
rs527236030
STIM1
4 0.851 0.400 11 4023945 missense variant A/T snv 0.800 1.000 4 2013 2015
dbSNP: rs748277951
rs748277951
STIM1
1 1.000 0.080 11 3967651 missense variant A/C;G snv 2.0E-05 0.800 1.000 4 2013 2015
dbSNP: rs140253806
rs140253806
CASQ1
1 1.000 0.080 1 160190881 missense variant G/A;C;T snv 2.0E-03; 4.0E-06; 4.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs371278891
rs371278891
CASQ1
1 1.000 0.080 1 160201339 missense variant T/C snv 6.4E-05 1.4E-05 0.700 1.000 1 2017 2017