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: rs201908137
rs201908137
UNC13D
1 1.000 0.040 17 75840506 splice donor variant C/A;T snv 4.4E-05; 4.0E-06 0.700 1.000 7 2003 2015
dbSNP: rs959968589
rs959968589
UNC13D
1 1.000 0.040 17 75843827 non coding transcript exon variant G/A snv 2.1E-04 0.700 1.000 7 2011 2015
dbSNP: rs764196809
rs764196809
UNC13D
1 1.000 0.040 17 75834093 frameshift variant CCCT/- delins 1.1E-04 7.0E-05 0.700 1.000 6 2006 2016
dbSNP: rs777759523
rs777759523
UNC13D
1 1.000 0.040 17 75836338 splice donor variant C/T snv 7.2E-05 6.3E-05 0.700 1.000 6 2003 2015
dbSNP: rs121434352
rs121434352
UNC13D
1 1.000 0.040 17 75840317 stop gained G/A;C snv 2.4E-05; 2.4E-05 0.700 1.000 5 2003 2014
dbSNP: rs1274685768
rs1274685768
UNC13D
1 1.000 0.040 17 75843173 stop gained G/A snv 4.0E-06 0.700 1.000 2 2008 2013
dbSNP: rs766657895
rs766657895
UNC13D
1 1.000 0.040 17 75830592 stop gained G/A snv 1.8E-05 1.4E-05 0.700 1.000 2 2012 2014
dbSNP: rs754882266
rs754882266
UNC13D
1 1.000 0.040 17 75835646 splice donor variant C/T snv 8.0E-06; 8.0E-06 0.700 1.000 1 2003 2003
dbSNP: rs121434353
rs121434353
UNC13D
1 1.000 0.040 17 75836662 missense variant A/G snv 0.700 0
dbSNP: rs121434354
rs121434354
UNC13D
1 1.000 0.040 17 75831153 missense variant A/C;T snv 0.700 0
dbSNP: rs1555600214
rs1555600214
UNC13D
5 0.925 0.040 17 75830577 splice donor variant C/T snv 0.700 0
dbSNP: rs1555601754
rs1555601754
UNC13D
1 1.000 0.040 17 75836084 stop gained A/T snv 0.700 0
dbSNP: rs1555601863
rs1555601863
UNC13D
5 0.925 0.040 17 75836430 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1567816070
rs1567816070
UNC13D
1 1.000 0.040 17 75828923 frameshift variant -/TCCA delins 0.700 0
dbSNP: rs1567818219
rs1567818219
UNC13D
1 1.000 0.040 17 75834356 frameshift variant ATCTCATGGC/TCGGACAAGGTA delins 0.700 0
dbSNP: rs1567818774
rs1567818774
UNC13D
1 1.000 0.040 17 75835489 stop gained G/A snv 0.700 0
dbSNP: rs763117746
rs763117746
UNC13D
1 1.000 0.040 17 75834330 stop gained C/A;T snv 4.4E-06; 1.3E-05 0.700 0
dbSNP: rs796065024
rs796065024
UNC13D
1 1.000 0.040 17 75835418 inframe deletion AGCGCGCTGCAC/- delins 0.700 0
dbSNP: rs796065025
rs796065025
UNC13D
1 1.000 0.040 17 75843204 frameshift variant G/- delins 0.700 0
dbSNP: rs796065026
rs796065026
UNC13D
1 1.000 0.040 17 75835502 frameshift variant -/A delins 0.700 0