rs1555599412, MKS1

N. diseases: 5
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Meckel syndrome type 1
CUI: C3714506
Disease: Meckel syndrome type 1
0.700 GeneticVariation CLINVAR Carrier testing for severe childhood recessive diseases by next-generation sequencing. 21228398 2011
BARDET-BIEDL SYNDROME 13
CUI: C2673873
Disease: BARDET-BIEDL SYNDROME 13
0.700 GeneticVariation CLINVAR Carrier testing for severe childhood recessive diseases by next-generation sequencing. 21228398 2011
JOUBERT SYNDROME 28
CUI: C4310705
Disease: JOUBERT SYNDROME 28
0.700 GeneticVariation CLINVAR Carrier testing for severe childhood recessive diseases by next-generation sequencing. 21228398 2011
Meckel-Gruber syndrome
CUI: C0265215
Disease: Meckel-Gruber syndrome
0.700 CausalMutation CLINVAR
Familial aplasia of the vermis
CUI: C0431399
Disease: Familial aplasia of the vermis
0.700 CausalMutation CLINVAR