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