Disease: Esophageal atresia with or without tracheoesophageal fistula
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs41293497
BRCA2
0.724 0.440 13 32340037 stop gained C/A;G;T snv 4.0E-06; 2.0E-05 14
rs28897756
BRCA2
0.752 0.440 13 32379913 splice region variant G/A;C;T snv 4.0E-06 11
rs80358435
BRCA2
0.752 0.440 13 32319154 stop gained G/C;T snv 4.0E-06; 4.0E-06 11
rs80358814
BRCA2
0.742 0.440 13 32340212 stop gained G/T snv 8.0E-06 11
rs80358972
BRCA2
0.742 0.480 13 32356472 stop gained C/A;T snv 8.0E-06; 3.2E-05 11
rs137852986
BRIP1
0.732 0.440 17 61716051 stop gained G/A snv 1.7E-04 1.5E-04 9
rs118203998
PALB2
0.790 0.400 16 23603471 stop gained G/C;T snv 1.6E-05; 4.0E-06 8
rs180177100
PALB2
0.827 0.400 16 23635306 stop gained G/A snv 8.0E-06 1.4E-05 6
rs104886457
AOPEP ; FANCC
0.882 0.240 9 95101742 stop gained G/A snv 5.2E-05 7.7E-05 4