Gene: MKS1 ×
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: rs386834043
rs386834043
MKS1
4 0.851 0.320 17 58206553 splice region variant ATGCCATTGGGACAGCCTCAGGTTTCTGC/- delins 1.3E-03 0.700 1.000 6 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 6 2007 2017
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: rs762668200
rs762668200
MKS1
3 0.882 0.320 17 58206543 splice acceptor variant -/C delins 6.5E-05 7.0E-06 0.700 1.000 2 2007 2007
dbSNP: rs1114167302
rs1114167302
MKS1
2 0.925 0.320 17 58216687 missense variant C/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1555600644
rs1555600644
MKS1
1 1.000 0.160 17 58216280 intron variant ATTATAATACATCAAACTTTTGCTTCTGTAACTGTTTAATCAAATCAGTTCTACAGAACTGATGCTATCTGACATGTTTTCATAACCAACACTAAACTAATGAATGGCAGGGGAACCAAGAACATTAGAGCTAAAAGGAACCA/- del 0.700 1.000 1 2015 2015
dbSNP: rs375170572
rs375170572
LPO ; MKS1 ; LOC105371841
5 0.827 0.320 17 58218618 splice donor variant A/G snv 3.2E-05 3.5E-05 0.700 1.000 1 2007 2007
dbSNP: rs766392300
rs766392300
MKS1
2 0.925 0.200 17 58207105 missense variant G/A;C;T snv 1.2E-05 0.700 1.000 1 2017 2017
dbSNP: rs773036963
rs773036963
MKS1
2 0.925 0.200 17 58213871 splice acceptor variant T/A snv 4.0E-06 0.700 1.000 1 2007 2007
dbSNP: rs773269657
rs773269657
MKS1
1 1.000 0.160 17 58207103 synonymous variant C/A snv 4.0E-06 0.700 1.000 1 2015 2015
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 1.000 1 2015 2015
dbSNP: rs779953982
rs779953982
MKS1
1 1.000 0.160 17 58214763 missense variant G/A snv 3.7E-05 2.1E-05 0.700 1.000 1 2015 2015
dbSNP: rs863225204
rs863225204
MKS1
1 1.000 0.160 17 58206342 frameshift variant -/G delins 0.700 1.000 1 2015 2015
dbSNP: rs863225205
rs863225205
LPO ; MKS1 ; LOC105371841
2 0.925 0.320 17 58219176 missense variant C/A snv 0.700 1.000 1 2015 2015
dbSNP: rs863225206
rs863225206
MKS1
1 1.000 0.160 17 58216124 frameshift variant G/- delins 0.700 1.000 1 2015 2015
dbSNP: rs863225207
rs863225207
MKS1
1 1.000 0.160 17 58206172 splice acceptor variant T/A snv 0.700 1.000 1 2015 2015
dbSNP: rs863225208
rs863225208
MKS1
2 0.925 0.320 17 58210988 missense variant C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs863225209
rs863225209
MKS1
1 1.000 0.160 17 58213072 frameshift variant -/G ins 0.700 1.000 1 2015 2015
dbSNP: rs863225210
rs863225210
MKS1
2 0.925 0.320 17 58207906 missense variant G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs1555599412
rs1555599412
MKS1
5 0.827 0.320 17 58213011 stop gained C/A snv 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 0
dbSNP: rs786204222
rs786204222
MKS1
2 0.925 0.200 17 58216694 missense variant A/C;G snv 0.700 0