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: rs201933838
rs201933838
MKS1
0.882 0.320 17 58214740 splice donor variant C/T snv 1.2E-05
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		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: C2673873
Disease: BARDET-BIEDL SYNDROME 13
BARDET-BIEDL SYNDROME 13 		0.700 1.000 1 2007 2007
dbSNP: rs375170572
rs375170572
LPO ; MKS1 ; LOC105371841
0.827 0.320 17 58218618 splice donor variant A/G snv 3.2E-05 3.5E-05
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.700 1.000 1 2007 2007
dbSNP: rs375170572
rs375170572
LPO ; MKS1 ; LOC105371841
0.827 0.320 17 58218618 splice donor variant A/G snv 3.2E-05 3.5E-05
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 1 2007 2007
dbSNP: rs386834044
rs386834044
MKS1
0.851 0.320 17 58206501 frameshift variant -/CCTG delins 7.2E-05 7.0E-06
CUI: C2673873
Disease: BARDET-BIEDL SYNDROME 13
BARDET-BIEDL SYNDROME 13 		0.700 1.000 1 2007 2007
dbSNP: rs386834044
rs386834044
MKS1
0.851 0.320 17 58206501 frameshift variant -/CCTG delins 7.2E-05 7.0E-06
CUI: C4310705
Disease: JOUBERT SYNDROME 28
JOUBERT SYNDROME 28 		0.700 1.000 1 2007 2007
dbSNP: rs386834044
rs386834044
MKS1
0.851 0.320 17 58206501 frameshift variant -/CCTG delins 7.2E-05 7.0E-06
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.700 1.000 1 2007 2007
dbSNP: rs386834046
rs386834046
LPO ; MKS1 ; LOC105371841
0.882 0.320 17 58218620 frameshift variant AGTTGGC/- delins
CUI: C4310705
Disease: JOUBERT SYNDROME 28
JOUBERT SYNDROME 28 		0.700 1.000 1 2007 2007
dbSNP: rs386834046
rs386834046
LPO ; MKS1 ; LOC105371841
0.882 0.320 17 58218620 frameshift variant AGTTGGC/- delins
CUI: C2673873
Disease: BARDET-BIEDL SYNDROME 13
BARDET-BIEDL SYNDROME 13 		0.700 1.000 1 2007 2007
dbSNP: rs386834046
rs386834046
LPO ; MKS1 ; LOC105371841
0.882 0.320 17 58218620 frameshift variant AGTTGGC/- delins
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.700 1.000 1 2007 2007
dbSNP: rs386834051
rs386834051
LPO ; MKS1 ; LOC105371841
0.882 0.320 17 58219175 frameshift variant -/CCCGG delins 6.6E-06
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.700 1.000 1 2006 2006
dbSNP: rs386834051
rs386834051
LPO ; MKS1 ; LOC105371841
0.882 0.320 17 58219175 frameshift variant -/CCCGG delins 6.6E-06
CUI: C2673873
Disease: BARDET-BIEDL SYNDROME 13
BARDET-BIEDL SYNDROME 13 		0.700 1.000 1 2006 2006
dbSNP: rs386834051
rs386834051
LPO ; MKS1 ; LOC105371841
0.882 0.320 17 58219175 frameshift variant -/CCCGG delins 6.6E-06
CUI: C4310705
Disease: JOUBERT SYNDROME 28
JOUBERT SYNDROME 28 		0.700 1.000 1 2006 2006
dbSNP: rs386834052
rs386834052
LPO ; MKS1 ; LOC105371841
0.882 0.320 17 58219149 splice donor variant A/G snv
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.700 1.000 1 2006 2006
dbSNP: rs386834052
rs386834052
LPO ; MKS1 ; LOC105371841
0.882 0.320 17 58219149 splice donor variant A/G snv
CUI: C4310705
Disease: JOUBERT SYNDROME 28
JOUBERT SYNDROME 28 		0.700 1.000 1 2006 2006
dbSNP: rs386834052
rs386834052
LPO ; MKS1 ; LOC105371841
0.882 0.320 17 58219149 splice donor variant A/G snv
CUI: C2673873
Disease: BARDET-BIEDL SYNDROME 13
BARDET-BIEDL SYNDROME 13 		0.700 1.000 1 2006 2006
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: rs773036963
rs773036963
MKS1
0.925 0.200 17 58213871 splice acceptor variant T/A snv 4.0E-06
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 1 2007 2007
dbSNP: rs773036963
rs773036963
MKS1
0.925 0.200 17 58213871 splice acceptor variant T/A snv 4.0E-06
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.700 1.000 1 2007 2007
dbSNP: rs773269657
rs773269657
MKS1
1.000 0.160 17 58207103 synonymous variant C/A snv 4.0E-06
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 1 2015 2015
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: rs863225204
rs863225204
MKS1
1.000 0.160 17 58206342 frameshift variant -/G delins
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