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: rs1057522275
rs1057522275
1 17 7674246 missense variant G/A;C snv 0.700 0
dbSNP: rs1131691003
rs1131691003
12 0.752 0.360 17 7676381 splice donor variant C/A;G snv 0.700 0
dbSNP: rs1131691005
rs1131691005
1 17 7670691 frameshift variant T/- del 0.700 0
dbSNP: rs1131691008
rs1131691008
1 17 7670659 frameshift variant AG/- delins 0.700 0
dbSNP: rs1131691010
rs1131691010
1 17 7676120 frameshift variant GC/- delins 0.700 0
dbSNP: rs1131691011
rs1131691011
1 17 7674932 frameshift variant T/- delins 0.700 0
dbSNP: rs1131691013
rs1131691013
1 17 7675223 missense variant A/G snv 0.700 0
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.700 0
dbSNP: rs1131691015
rs1131691015
1 17 7676379 splice donor variant -/A delins 0.700 0
dbSNP: rs1131691016
rs1131691016
3 0.925 0.240 17 7673699 splice donor variant A/C;T snv 0.700 0
dbSNP: rs1131691018
rs1131691018
1 17 7676537 frameshift variant A/- delins 0.700 0
dbSNP: rs1131691020
rs1131691020
1 17 7676405 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1131691022
rs1131691022
6 0.827 0.160 17 7670685 frameshift variant GG/A;G delins 0.700 0
dbSNP: rs1131691027
rs1131691027
1 17 7673776 frameshift variant G/- delins 0.700 0
dbSNP: rs1131691031
rs1131691031
1 17 7676041 frameshift variant GGAAA/TTTT delins 0.700 0
dbSNP: rs1131691035
rs1131691035
1 17 7674939 frameshift variant C/- delins 0.700 0
dbSNP: rs1131691036
rs1131691036
8 0.851 0.080 17 7675207 frameshift variant GCA/CC delins 0.700 0
dbSNP: rs1131691038
rs1131691038
1 17 7676043 frameshift variant A/TTGGG delins 0.700 0
dbSNP: rs1131691039
rs1131691039
5 0.851 0.240 17 7673700 splice donor variant C/A;G;T snv 0.700 0
dbSNP: rs1131691040
rs1131691040
1 17 7670698 frameshift variant GC/- delins 0.700 0
dbSNP: rs1131691041
rs1131691041
3 17 7676271 frameshift variant -/A delins 0.700 0
dbSNP: rs121912652
rs121912652
4 0.882 0.200 17 7674191 stop gained C/A;T snv 0.700 0
dbSNP: rs137852790
rs137852790
1 17 7675153 frameshift variant GGCGGGGGTGTGG/-;G delins 0.700 0
dbSNP: rs1555524976
rs1555524976
1 17 7673578 frameshift variant T/- del 0.700 0
dbSNP: rs1555525158
rs1555525158
1 17 7673757 frameshift variant -/CT delins 0.700 0