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: rs156429
rs156429
4 0.882 0.080 7 23266401 non coding transcript exon variant T/C snv 0.54 0.010 1.000 1 2016 2016
dbSNP: rs121909323
rs121909323
8 0.790 0.160 19 13277122 stop gained G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs786200962
rs786200962
7 0.827 0.120 19 13298768 frameshift variant A/- del 0.700 1.000 1 2015 2015
dbSNP: rs1057518988
rs1057518988
3 0.925 0.040 12 13571859 missense variant T/C snv 0.700 0
dbSNP: rs1057518991
rs1057518991
2 0.925 20 50894041 stop gained G/A snv 0.700 0
dbSNP: rs1057519002
rs1057519002
1 1.000 6 157207497 frameshift variant T/- delins 0.700 0
dbSNP: rs1057519005
rs1057519005
1 1.000 18 33739390 stop gained C/A snv 0.700 0
dbSNP: rs1057519010
rs1057519010
1 1.000 2 165374775 frameshift variant GGAGTGAATCTCT/- del 0.700 0
dbSNP: rs1057519012
rs1057519012
2 1.000 22 41147864 frameshift variant -/G delins 0.700 0
dbSNP: rs1562927768
rs1562927768
15 0.790 0.080 7 105101476 frameshift variant AAAGA/- delins 0.700 0
dbSNP: rs1562931936
rs1562931936
5 1.000 7 105107527 stop gained C/T snv 0.700 0
dbSNP: rs80359826
rs80359826
7 0.807 0.120 1 42929018 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs876661219
rs876661219
2 1.000 12 13571891 missense variant A/C;G snv 0.700 0
dbSNP: rs886041856
rs886041856
1 1.000 11 118476949 stop gained C/A;T snv 4.0E-06 0.700 0