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: rs886037892
rs886037892
CIT
1 1.000 12 119857620 missense variant C/A snv 4.0E-06 0.800 1.000 4 2016 2016
dbSNP: rs886037893
rs886037893
CIT
1 1.000 12 119857561 missense variant T/G snv 0.800 1.000 4 2016 2016
dbSNP: rs886037894
rs886037894
CIT
1 1.000 12 119832835 missense variant T/A;C snv 4.0E-06 0.800 1.000 4 2016 2016
dbSNP: rs879253817
rs879253817
CIT
4 0.925 0.120 12 119876131 frameshift variant AAAGGATTCC/- delins 0.700 0
dbSNP: rs879255522
rs879255522
CIT
3 0.925 0.120 12 119822819 splice donor variant C/T snv 0.700 0
dbSNP: rs886037895
rs886037895
CIT
1 1.000 12 119832768 splice region variant T/A snv 4.0E-06 0.700 0