Disease: Meckel-Gruber syndrome
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs201893408
TMEM67
0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 28
rs137852832
CEP290
0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05 17
rs376493409
CEP290
0.742 0.280 12 88083161 stop gained G/A;T snv 7.0E-05 12
rs281865192
CEP290
0.742 0.280 12 88101183 intron variant T/C snv 2.8E-04 11
rs386833760
CC2D2A
0.790 0.360 4 15587929 splice donor variant G/- delins 1.9E-04 11
rs386834158
CEP290
0.851 0.280 12 88077790 frameshift variant T/- delins 2.2E-05 7.0E-06 10
rs754279998
MKS1
0.776 0.360 17 58208153 inframe deletion GAG/- delins 2.0E-05 1.4E-05 10
rs539400286
CEP290
0.763 0.280 12 88086083 stop gained G/A snv 1.6E-05 2.1E-05 9
rs1170451277
CEP290
0.776 0.280 12 88120207 stop gained G/A snv 1.4E-05 8
rs386834180
TMEM67
0.776 0.360 8 93781725 missense variant T/C snv 2.0E-05 4.2E-05 8
rs760915898
CEP290
0.776 0.280 12 88086038 splice donor variant C/T snv 5.4E-05 9.1E-05 8
rs776645403
CEP290
0.776 0.280 12 88125357 stop gained G/A snv 3.8E-05 2.1E-05 8
rs965522059
CEP290
0.776 0.280 12 88125370 splice acceptor variant C/T snv 1.5E-05 8
rs386834152
CEP290
0.790 0.280 12 88114488 stop gained G/A snv 5.1E-05 4.9E-05 7
rs863225235
TMEM67
0.790 0.360 8 93782444 missense variant C/A snv 4.0E-06 7.0E-06 7
rs386833750
CC2D2A
0.807 0.360 4 15563485 stop gained C/A;G;T snv 2.0E-05; 2.0E-05 6
rs727503855
CEP290
0.807 0.240 12 88118528 frameshift variant TT/-;T;TTT delins 7.1E-06 6
rs775883520
TMEM67
0.851 0.240 8 93780603 missense variant A/G snv 8.0E-06 7.0E-06 6
rs121918204
RPGRIP1L
0.827 0.360 16 53652637 stop gained G/A snv 6.4E-05 2.1E-05 5
rs1555599412
MKS1
0.827 0.320 17 58213011 stop gained C/A snv 5
rs267607119
TMEM67
0.827 0.360 8 93808898 missense variant T/C snv 4.0E-05 8.4E-05 5
rs370880399
CC2D2A
0.827 0.360 4 15563395 stop gained C/T snv 1.0E-04 1.0E-04 5
rs375170572
LOC105371841 ; MKS1 ; LPO
0.827 0.320 17 58218618 splice donor variant A/G snv 3.2E-05 3.5E-05 5
rs386834048
MKS1
0.827 0.320 17 58216088 splice region variant C/T snv 1.3E-04 1.3E-04 5
rs386834157
CEP290
0.827 0.280 12 88136697 frameshift variant ATCT/- delins 5.6E-05 8.4E-05 5