Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs137853105
rs137853105
MKS1
0.882 0.160 17 58206479 missense variant A/C snv 5.6E-05 2.8E-05
CUI: C2673873
Disease: BARDET-BIEDL SYNDROME 13
BARDET-BIEDL SYNDROME 13 		0.800 1.000 0 2008 2008
dbSNP: rs386834048
rs386834048
MKS1
0.827 0.320 17 58216088 splice region variant C/T snv 1.3E-04 1.3E-04
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.700 1.000 7 2007 2017
dbSNP: rs386834043
rs386834043
MKS1
0.851 0.320 17 58206553 splice region variant ATGCCATTGGGACAGCCTCAGGTTTCTGC/- delins 1.3E-03
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 6 2006 2016
dbSNP: rs386834048
rs386834048
MKS1
0.827 0.320 17 58216088 splice region variant C/T snv 1.3E-04 1.3E-04
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 6 2007 2017
dbSNP: rs386834043
rs386834043
MKS1
0.851 0.320 17 58206553 splice region variant ATGCCATTGGGACAGCCTCAGGTTTCTGC/- delins 1.3E-03
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.700 1.000 5 2006 2007
dbSNP: rs386834048
rs386834048
MKS1
0.827 0.320 17 58216088 splice region variant C/T snv 1.3E-04 1.3E-04
CUI: C2673873
Disease: BARDET-BIEDL SYNDROME 13
BARDET-BIEDL SYNDROME 13 		0.700 1.000 4 2007 2015
dbSNP: rs386834048
rs386834048
MKS1
0.827 0.320 17 58216088 splice region variant C/T snv 1.3E-04 1.3E-04
CUI: C4310705
Disease: JOUBERT SYNDROME 28
JOUBERT SYNDROME 28 		0.700 1.000 4 2007 2015
dbSNP: rs386834048
rs386834048
MKS1
0.827 0.320 17 58216088 splice region variant C/T snv 1.3E-04 1.3E-04
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.700 1.000 4 2007 2015
dbSNP: rs754279998
rs754279998
MKS1
0.776 0.360 17 58208153 inframe deletion GAG/- delins 2.0E-05 1.4E-05
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.700 1.000 3 2014 2016
dbSNP: rs754279998
rs754279998
MKS1
0.776 0.360 17 58208153 inframe deletion GAG/- delins 2.0E-05 1.4E-05
CUI: C4310705
Disease: JOUBERT SYNDROME 28
JOUBERT SYNDROME 28 		0.700 1.000 3 2014 2016
dbSNP: rs754279998
rs754279998
MKS1
0.776 0.360 17 58208153 inframe deletion GAG/- delins 2.0E-05 1.4E-05
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.700 1.000 3 2014 2016
dbSNP: rs754279998
rs754279998
MKS1
0.776 0.360 17 58208153 inframe deletion GAG/- delins 2.0E-05 1.4E-05
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 3 2014 2016
dbSNP: rs754279998
rs754279998
MKS1
0.776 0.360 17 58208153 inframe deletion GAG/- delins 2.0E-05 1.4E-05
CUI: C2673873
Disease: BARDET-BIEDL SYNDROME 13
BARDET-BIEDL SYNDROME 13 		0.700 1.000 3 2014 2016
dbSNP: rs386834043
rs386834043
MKS1
0.851 0.320 17 58206553 splice region variant ATGCCATTGGGACAGCCTCAGGTTTCTGC/- delins 1.3E-03
CUI: C4310705
Disease: JOUBERT SYNDROME 28
JOUBERT SYNDROME 28 		0.700 1.000 2 2006 2012
dbSNP: rs762668200
rs762668200
MKS1
0.882 0.320 17 58206543 splice acceptor variant -/C delins 6.5E-05 7.0E-06
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.700 1.000 2 2007 2007
dbSNP: rs762668200
rs762668200
MKS1
0.882 0.320 17 58206543 splice acceptor variant -/C delins 6.5E-05 7.0E-06
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 2 2007 2007
dbSNP: rs1114167302
rs1114167302
MKS1
0.925 0.320 17 58216687 missense variant C/A snv
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 1 2016 2016
dbSNP: rs1555599412
rs1555599412
MKS1
0.827 0.320 17 58213011 stop gained C/A snv
CUI: C4310705
Disease: JOUBERT SYNDROME 28
JOUBERT SYNDROME 28 		0.700 1.000 1 2011 2011
dbSNP: rs1555599412
rs1555599412
MKS1
0.827 0.320 17 58213011 stop gained C/A snv
CUI: C2673873
Disease: BARDET-BIEDL SYNDROME 13
BARDET-BIEDL SYNDROME 13 		0.700 1.000 1 2011 2011
dbSNP: rs1555599412
rs1555599412
MKS1
0.827 0.320 17 58213011 stop gained C/A snv
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.700 1.000 1 2011 2011
dbSNP: rs1555600644
rs1555600644
MKS1
1.000 0.160 17 58216280 intron variant ATTATAATACATCAAACTTTTGCTTCTGTAACTGTTTAATCAAATCAGTTCTACAGAACTGATGCTATCTGACATGTTTTCATAACCAACACTAAACTAATGAATGGCAGGGGAACCAAGAACATTAGAGCTAAAAGGAACCA/- del
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 1 2015 2015
dbSNP: rs199874059
rs199874059
MKS1
0.882 0.320 17 58210658 splice donor variant C/T snv 6.0E-05 2.1E-05
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.700 1.000 1 2007 2007
dbSNP: rs199874059
rs199874059
MKS1
0.882 0.320 17 58210658 splice donor variant C/T snv 6.0E-05 2.1E-05
CUI: C4310705
Disease: JOUBERT SYNDROME 28
JOUBERT SYNDROME 28 		0.700 1.000 1 2007 2007
dbSNP: rs199874059
rs199874059
MKS1
0.882 0.320 17 58210658 splice donor variant C/T snv 6.0E-05 2.1E-05
CUI: C2673873
Disease: BARDET-BIEDL SYNDROME 13
BARDET-BIEDL SYNDROME 13 		0.700 1.000 1 2007 2007
dbSNP: rs201933838
rs201933838
MKS1
0.882 0.320 17 58214740 splice donor variant C/T snv 1.2E-05
CUI: C4310705
Disease: JOUBERT SYNDROME 28
JOUBERT SYNDROME 28 		0.700 1.000 1 2007 2007