Source: ALL
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: rs74315394
rs74315394
MKKS
4 0.851 0.440 20 10412791 missense variant C/A snv 5.2E-03 5.0E-03 0.010 1.000 1 2005 2005
dbSNP: rs281797258
rs281797258
MKKS
3 0.882 0.400 20 10413265 missense variant G/A snv 4.0E-06 2.4E-04 0.010 1.000 1 2005 2005
dbSNP: rs1487082103
rs1487082103
TGFB1 ; B9D2
2 0.925 0.320 19 41354927 missense variant T/G snv 8.2E-06 0.010 < 0.001 1 2011 2011
dbSNP: rs1555596845
rs1555596845
MKS1
3 0.882 0.320 17 58206493 frameshift variant GTGACAGTGCCTGTGGTCTCTGTGCGGAG/- delins 0.700 0
dbSNP: rs386834044
rs386834044
MKS1
4 0.851 0.320 17 58206501 frameshift variant -/CCTG delins 7.2E-05 7.0E-06 0.700 1.000 1 2007 2007
dbSNP: rs762668200
rs762668200
MKS1
3 0.882 0.320 17 58206543 splice acceptor variant -/C delins 6.5E-05 7.0E-06 0.700 0
dbSNP: rs1555596943
rs1555596943
MKS1
3 0.882 0.320 17 58206549 splice acceptor variant T/C snv 0.700 0
dbSNP: rs386834043
rs386834043
MKS1
4 0.851 0.320 17 58206553 splice region variant ATGCCATTGGGACAGCCTCAGGTTTCTGC/- delins 1.3E-03 0.700 0
dbSNP: rs865870355
rs865870355
MKS1
3 0.882 0.320 17 58207098 frameshift variant G/- delins 8.0E-06 2.1E-05 0.700 0
dbSNP: rs863225210
rs863225210
MKS1
2 0.925 0.320 17 58207906 missense variant G/A snv 0.700 1.000 3 2006 2016
dbSNP: rs773684291
rs773684291
MKS1
2 0.925 0.320 17 58207959 missense variant G/A;C snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs1488635637
rs1488635637
MKS1
6 0.827 0.360 17 58208003 splice acceptor variant T/C;G snv 7.0E-06 0.700 0
dbSNP: rs754279998
rs754279998
MKS1
10 0.776 0.360 17 58208153 inframe deletion GAG/- delins 2.0E-05 1.4E-05 0.700 1.000 3 2014 2016
dbSNP: rs794727070
rs794727070
MKS1
3 0.882 0.320 17 58208585 splice acceptor variant T/G snv 0.700 0
dbSNP: rs199874059
rs199874059
MKS1
3 0.882 0.320 17 58210658 splice donor variant C/T snv 6.0E-05 2.1E-05 0.700 1.000 1 2007 2007
dbSNP: rs386834053
rs386834053
MKS1
2 0.925 0.320 17 58210980 missense variant C/T snv 2.0E-05 2.1E-05 0.700 0
dbSNP: rs863225208
rs863225208
MKS1
2 0.925 0.320 17 58210988 missense variant C/T snv 0.700 1.000 3 2006 2016
dbSNP: rs756102768
rs756102768
MKS1
3 0.882 0.320 17 58212981 splice donor variant C/G;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs797045706
rs797045706
MKS1
3 0.882 0.320 17 58212996 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs1555599412
rs1555599412
MKS1
5 0.827 0.320 17 58213011 stop gained C/A snv 0.700 1.000 1 2011 2011
dbSNP: rs1376664664
rs1376664664
MKS1
3 0.882 0.320 17 58214739 splice donor variant A/C;G snv 4.1E-06 0.700 0
dbSNP: rs201933838
rs201933838
MKS1
3 0.882 0.320 17 58214740 splice donor variant C/T snv 1.2E-05 0.700 1.000 1 2007 2007
dbSNP: rs756853299
rs756853299
MKS1
3 0.882 0.320 17 58214748 stop gained G/A snv 8.2E-06 0.700 0
dbSNP: rs201845154
rs201845154
MKS1
1 1.000 0.320 17 58214760 missense variant G/A snv 1.8E-04 3.4E-04 0.700 1.000 3 2006 2016
dbSNP: rs386834048
rs386834048
MKS1
5 0.827 0.320 17 58216088 splice region variant C/T snv 1.3E-04 1.3E-04 0.700 1.000 4 2007 2015