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: rs375431319
rs375431319
ARL6
2 0.925 0.320 3 97780679 missense variant T/C snv 0.010 1.000 1 2005 2005
dbSNP: rs1331874836
rs1331874836
TTC8
2 0.925 0.320 14 88857230 missense variant G/T snv 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs780253341
rs780253341
BBS4
2 0.925 0.320 15 72731386 missense variant G/A;T snv 0.010 1.000 1 2005 2005
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
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: 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: rs863225205
rs863225205
LPO ; MKS1 ; LOC105371841
2 0.925 0.320 17 58219176 missense variant C/A snv 0.700 1.000 3 2006 2016
dbSNP: rs863225208
rs863225208
MKS1
2 0.925 0.320 17 58210988 missense variant C/T snv 0.700 1.000 3 2006 2016
dbSNP: rs863225210
rs863225210
MKS1
2 0.925 0.320 17 58207906 missense variant G/A snv 0.700 1.000 3 2006 2016
dbSNP: rs1114167302
rs1114167302
MKS1
2 0.925 0.320 17 58216687 missense variant C/A snv 0.010 1.000 1 2016 2016
dbSNP: rs1555599412
rs1555599412
MKS1
5 0.827 0.320 17 58213011 stop gained C/A snv 0.700 1.000 1 2011 2011
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: 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: 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: rs386834046
rs386834046
LPO ; MKS1 ; LOC105371841
3 0.882 0.320 17 58218620 frameshift variant AGTTGGC/- delins 0.700 1.000 1 2007 2007
dbSNP: rs386834051
rs386834051
LPO ; MKS1 ; LOC105371841
3 0.882 0.320 17 58219175 frameshift variant -/CCCGG delins 6.6E-06 0.700 1.000 1 2006 2006
dbSNP: rs386834052
rs386834052
LPO ; MKS1 ; LOC105371841
3 0.882 0.320 17 58219149 splice donor variant A/G snv 0.700 1.000 1 2006 2006
dbSNP: rs886044605
rs886044605
MKS1
1 1.000 0.320 17 58216174 missense variant T/C;G snv 4.0E-06 0.010 < 0.001 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: rs1488635637
rs1488635637
MKS1
6 0.827 0.360 17 58208003 splice acceptor variant T/C;G snv 7.0E-06 0.700 0
dbSNP: rs1555596845
rs1555596845
MKS1
3 0.882 0.320 17 58206493 frameshift variant GTGACAGTGCCTGTGGTCTCTGTGCGGAG/- delins 0.700 0
dbSNP: rs1555596943
rs1555596943
MKS1
3 0.882 0.320 17 58206549 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1555601787
rs1555601787
LPO ; MKS1 ; LOC105371841
3 0.882 0.320 17 58219230 start lost T/C snv 0.700 0
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 0
dbSNP: rs386834043
rs386834043
MKS1
4 0.851 0.320 17 58206553 splice region variant ATGCCATTGGGACAGCCTCAGGTTTCTGC/- delins 1.3E-03 0.700 0