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: rs754611265
rs754611265
4 0.882 0.200 13 32346886 frameshift variant -/T delins 7.0E-06 0.700 0
dbSNP: rs760815829
rs760815829
3 0.882 0.200 13 32332667 stop gained C/T snv 0.700 0
dbSNP: rs786204752
rs786204752
3 0.882 0.200 13 32337092 frameshift variant ACTTG/- delins 0.700 0
dbSNP: rs80358391
rs80358391
10 0.763 0.320 13 32319109 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs80358427
rs80358427
10 0.776 0.280 13 32332877 stop gained A/T snv 4.0E-06 0.700 0
dbSNP: rs80358435
rs80358435
11 0.752 0.440 13 32319154 stop gained G/C;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs80358451
rs80358451
2 0.925 0.160 13 32333140 missense variant T/G snv 5.6E-05 6.3E-05 0.700 0
dbSNP: rs80358463
rs80358463
1 1.000 0.080 13 32319188 missense variant A/G;T snv 2.4E-05 0.700 0
dbSNP: rs80358533
rs80358533
5 0.851 0.200 13 32337185 stop gained A/T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs80358557
rs80358557
10 0.763 0.320 13 32337464 stop gained C/A;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs80358638
rs80358638
9 0.776 0.280 13 32338277 stop gained G/A;T snv 5.6E-05 0.700 0
dbSNP: rs80358721
rs80358721
14 0.724 0.320 13 32339320 stop gained C/A;G;R snv 4.2E-06 0.700 0
dbSNP: rs80358785
rs80358785
9 0.790 0.240 13 32340000 stop gained C/A;G snv 1.6E-05 0.700 0
dbSNP: rs80358814
rs80358814
12 0.742 0.440 13 32340212 stop gained G/T snv 8.0E-06 0.700 0
dbSNP: rs80358831
rs80358831
4 0.882 0.200 13 32340335 stop gained C/T snv 0.700 0
dbSNP: rs80358892
rs80358892
3 0.882 0.200 13 32341000 stop gained C/G snv 0.700 0
dbSNP: rs80358893
rs80358893
10 0.763 0.320 13 32341011 stop gained C/G snv 0.700 0
dbSNP: rs80358920
rs80358920
14 0.732 0.400 13 32346841 stop gained C/G;T snv 0.700 0
dbSNP: rs80358936
rs80358936
4 0.882 0.200 13 32354913 stop gained C/T snv 0.700 0
dbSNP: rs80358961
rs80358961
2 0.925 0.080 13 32319082 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs80358968
rs80358968
1 1.000 0.080 13 32356455 missense variant G/A snv 1.2E-05 0.700 0
dbSNP: rs80358972
rs80358972
12 0.742 0.480 13 32356472 stop gained C/A;T snv 8.0E-06; 3.2E-05 0.700 0
dbSNP: rs80358981
rs80358981
7 0.827 0.200 13 32356550 stop gained C/T snv 2.0E-05 1.4E-05 0.700 0
dbSNP: rs80359022
rs80359022
3 0.925 0.080 13 32362675 missense variant T/C;G snv 0.700 0
dbSNP: rs80359027
rs80359027
5 0.851 0.200 13 32362693 missense variant G/A;C snv 4.0E-06 0.700 0