Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587778792
rs587778792
SHH
G 0.710 CausalMutation CLINVAR

dbSNP: rs587778792
rs587778792
SHH
0.710 GeneticVariation BEFREE Here, we analyze seven reported missense mutations (G31R, D88V, Q100H, N115K, W117G, W117R, and E188Q) that alter the N-terminal signaling domain of Shh protein, and show that two of these mutations (Q100H and E188Q), which are questionably linked to HPE, produce no detectable effects on function. 16282375

2005