Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1558937172
rs1558937172
GLI2
A 0.700 GeneticVariation CLINVAR Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly. 20685856

2010
dbSNP: rs1558937172
rs1558937172
GLI2
A 0.700 GeneticVariation CLINVAR Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features. 14581620

2003
dbSNP: rs114814747
rs114814747
GLI2
0.700 GeneticVariation UNIPROT

dbSNP: rs1388607733
rs1388607733
GLI2
AT 0.700 CausalMutation CLINVAR

dbSNP: rs149140724
rs149140724
GLI2
0.700 GeneticVariation UNIPROT

dbSNP: rs149800897
rs149800897
GLI2
0.700 GeneticVariation UNIPROT

dbSNP: rs1553471273
rs1553471273
GLI2
C 0.700 CausalMutation CLINVAR

dbSNP: rs1553478423
rs1553478423
GLI2
C 0.700 CausalMutation CLINVAR

dbSNP: rs374155310
rs374155310
GLI2
T 0.700 CausalMutation CLINVAR

dbSNP: rs587777455
rs587777455
GLI2
G 0.700 CausalMutation CLINVAR

dbSNP: rs587777456
rs587777456
GLI2
C 0.700 CausalMutation CLINVAR

dbSNP: rs879255280
rs879255280
SMO
0.010 GeneticVariation BEFREE A recurrent, mosaic mutation of SMO (c.1234 C>T; p.Leu412Phe) causes CJS. 28386950

2017