Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs754279998
MKS1
0.776 0.360 17 58208153 inframe deletion GAG/- delins 2.0E-05 1.4E-05 10
rs1488635637
MKS1
0.827 0.360 17 58208003 splice acceptor variant T/C;G snv 7.0E-06 6
rs375170572
LOC105371841 ; MKS1 ; LPO
0.827 0.320 17 58218618 splice donor variant A/G snv 3.2E-05 3.5E-05 5
rs1555599412
MKS1
0.827 0.320 17 58213011 stop gained C/A snv 5
rs386834048
MKS1
0.827 0.320 17 58216088 splice region variant C/T snv 1.3E-04 1.3E-04 5
rs74315394
MKKS
0.851 0.440 20 10412791 missense variant C/A snv 5.2E-03 5.0E-03 4
rs386834043
MKS1
0.851 0.320 17 58206553 splice region variant ATGCCATTGGGACAGCCTCAGGTTTCTGC/- delins 1.3E-03 4
rs386834044
MKS1
0.851 0.320 17 58206501 frameshift variant -/CCTG delins 7.2E-05 7.0E-06 4
rs386834046
LPO ; LOC105371841 ; MKS1
0.882 0.320 17 58218620 frameshift variant AGTTGGC/- delins 3
rs386834052
LPO ; MKS1 ; LOC105371841
0.882 0.320 17 58219149 splice donor variant A/G snv 3
rs281797258
MKKS
0.882 0.400 20 10413265 missense variant G/A snv 4.0E-06 2.4E-04 3
rs1376664664
MKS1
0.882 0.320 17 58214739 splice donor variant A/C;G snv 4.1E-06 3
rs1555596845
MKS1
0.882 0.320 17 58206493 frameshift variant GTGACAGTGCCTGTGGTCTCTGTGCGGAG/- delins 3
rs1555596943
MKS1
0.882 0.320 17 58206549 splice acceptor variant T/C snv 3
rs199874059
MKS1
0.882 0.320 17 58210658 splice donor variant C/T snv 6.0E-05 2.1E-05 3
rs201933838
MKS1
0.882 0.320 17 58214740 splice donor variant C/T snv 1.2E-05 3
rs756102768
MKS1
0.882 0.320 17 58212981 splice donor variant C/G;T snv 4.0E-06; 4.0E-06 3
rs756853299
MKS1
0.882 0.320 17 58214748 stop gained G/A snv 8.2E-06 3
rs762668200
MKS1
0.882 0.320 17 58206543 splice acceptor variant -/C delins 6.5E-05 7.0E-06 3
rs775043799
MKS1
0.882 0.320 17 58216137 frameshift variant -/G delins 3
rs794727070
MKS1
0.882 0.320 17 58208585 splice acceptor variant T/G snv 3
rs797045706
MKS1
0.882 0.320 17 58212996 stop gained G/A snv 7.0E-06 3
rs865870355
MKS1
0.882 0.320 17 58207098 frameshift variant G/- delins 8.0E-06 2.1E-05 3
rs1555601787
MKS1 ; LPO ; LOC105371841
0.882 0.320 17 58219230 start lost T/C snv 3
rs386834051
MKS1 ; LPO ; LOC105371841
0.882 0.320 17 58219175 frameshift variant -/CCCGG delins 6.6E-06 3