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: 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: 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: rs1555599412
rs1555599412
MKS1
0.827 0.320 17 58213011 stop gained C/A snv
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 0
dbSNP: rs1555599412
rs1555599412
MKS1
0.827 0.320 17 58213011 stop gained C/A snv
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.700 0
dbSNP: rs756853299
rs756853299
MKS1
0.882 0.320 17 58214748 stop gained G/A snv 8.2E-06
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.700 0
dbSNP: rs756853299
rs756853299
MKS1
0.882 0.320 17 58214748 stop gained G/A snv 8.2E-06
CUI: C4310705
Disease: JOUBERT SYNDROME 28
JOUBERT SYNDROME 28 		0.700 0
dbSNP: rs756853299
rs756853299
MKS1
0.882 0.320 17 58214748 stop gained G/A snv 8.2E-06
CUI: C2673873
Disease: BARDET-BIEDL SYNDROME 13
BARDET-BIEDL SYNDROME 13 		0.700 0
dbSNP: rs786205508
rs786205508
MKS1
0.851 0.200 17 58208542 stop gained G/A snv
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.700 0
dbSNP: rs786205508
rs786205508
MKS1
0.851 0.200 17 58208542 stop gained G/A snv
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.700 0
dbSNP: rs786205508
rs786205508
MKS1
0.851 0.200 17 58208542 stop gained G/A snv
CUI: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		0.700 0
dbSNP: rs786205508
rs786205508
MKS1
0.851 0.200 17 58208542 stop gained G/A snv
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		0.700 0
dbSNP: rs786205508
rs786205508
MKS1
0.851 0.200 17 58208542 stop gained G/A snv
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.700 0
dbSNP: rs797045706
rs797045706
MKS1
0.882 0.320 17 58212996 stop gained G/A snv 7.0E-06
CUI: C2673873
Disease: BARDET-BIEDL SYNDROME 13
BARDET-BIEDL SYNDROME 13 		0.700 0
dbSNP: rs797045706
rs797045706
MKS1
0.882 0.320 17 58212996 stop gained G/A snv 7.0E-06
CUI: C4310705
Disease: JOUBERT SYNDROME 28
JOUBERT SYNDROME 28 		0.700 0
dbSNP: rs797045706
rs797045706
MKS1
0.882 0.320 17 58212996 stop gained G/A snv 7.0E-06
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.700 0
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: rs766392300
rs766392300
MKS1
0.925 0.200 17 58207105 missense variant G/A;C;T snv 1.2E-05
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.700 1.000 1 2017 2017
dbSNP: rs766392300
rs766392300
MKS1
0.925 0.200 17 58207105 missense variant G/A;C;T snv 1.2E-05
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 1 2017 2017
dbSNP: rs773684291
rs773684291
MKS1
0.925 0.320 17 58207959 missense variant G/A;C snv 8.0E-06; 4.0E-06
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 1 2015 2015
dbSNP: rs779953982
rs779953982
MKS1
1.000 0.160 17 58214763 missense variant G/A snv 3.7E-05 2.1E-05
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 1 2015 2015
dbSNP: rs863225205
rs863225205
LPO ; MKS1 ; LOC105371841
0.925 0.320 17 58219176 missense variant C/A snv
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 1 2015 2015
dbSNP: rs863225208
rs863225208
MKS1
0.925 0.320 17 58210988 missense variant C/T snv
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 1 2015 2015
dbSNP: rs863225210
rs863225210
MKS1
0.925 0.320 17 58207906 missense variant G/A snv
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 1 2015 2015