Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917852
rs121917852
IHH ; MIR3131
0.810 GeneticVariation BEFREE p.E95K mutation in Indian hedgehog causing brachydactyly type A1 impairs IHH/Gli1 downstream transcriptional regulation. 30651074

2019
dbSNP: rs121917852
rs121917852
IHH ; MIR3131
0.810 GeneticVariation UNIPROT In this paper, we analyzed three BDA1 mutations (E95K, D100E, and E131K) in the N-terminal fragment of Indian Hedgehog (IhhN). 21537345

2011
dbSNP: rs121917852
rs121917852
IHH ; MIR3131
0.810 GeneticVariation UNIPROT A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved. 12384778

2002
dbSNP: rs121917852
rs121917852
IHH ; MIR3131
0.810 GeneticVariation UNIPROT Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1. 11455389

2001
dbSNP: rs121917852
rs121917852
IHH ; MIR3131
T 0.810 CausalMutation CLINVAR

dbSNP: rs121917853
rs121917853
IHH
0.800 GeneticVariation UNIPROT In this paper, we analyzed three BDA1 mutations (E95K, D100E, and E131K) in the N-terminal fragment of Indian Hedgehog (IhhN). 21537345

2011
dbSNP: rs121917854
rs121917854
IHH ; MIR3131
0.800 GeneticVariation UNIPROT In this paper, we analyzed three BDA1 mutations (E95K, D100E, and E131K) in the N-terminal fragment of Indian Hedgehog (IhhN). 21537345

2011
dbSNP: rs121917855
rs121917855
IHH ; MIR3131
0.800 GeneticVariation UNIPROT Indian hedgehog mutations causing brachydactyly type A1 impair Hedgehog signal transduction at multiple levels. 21537345

2011
dbSNP: rs121917853
rs121917853
IHH
0.800 GeneticVariation UNIPROT A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved. 12384778

2002
dbSNP: rs121917854
rs121917854
IHH ; MIR3131
0.800 GeneticVariation UNIPROT A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved. 12384778

2002
dbSNP: rs121917855
rs121917855
IHH ; MIR3131
0.800 GeneticVariation UNIPROT A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved. 12384778

2002
dbSNP: rs121917853
rs121917853
IHH
0.800 GeneticVariation UNIPROT Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1. 11455389

2001
dbSNP: rs121917854
rs121917854
IHH ; MIR3131
0.800 GeneticVariation UNIPROT Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1. 11455389

2001
dbSNP: rs121917855
rs121917855
IHH ; MIR3131
0.800 GeneticVariation UNIPROT Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1. 11455389

2001
dbSNP: rs121917853
rs121917853
IHH
T 0.800 CausalMutation CLINVAR

dbSNP: rs121917854
rs121917854
IHH ; MIR3131
T 0.800 CausalMutation CLINVAR

dbSNP: rs121917855
rs121917855
IHH ; MIR3131
T 0.800 CausalMutation CLINVAR

dbSNP: rs121917859
rs121917859
IHH ; MIR3131
C 0.700 CausalMutation CLINVAR

dbSNP: rs121917861
rs121917861
IHH
A 0.700 CausalMutation CLINVAR

dbSNP: rs267606872
rs267606872
IHH
T 0.700 CausalMutation CLINVAR

dbSNP: rs267606873
rs267606873
IHH
T 0.700 CausalMutation CLINVAR

dbSNP: rs1376766191
rs1376766191
SSTR4
0.010 GeneticVariation BEFREE p.E95K mutation in Indian hedgehog causing brachydactyly type A1 impairs IHH/Gli1 downstream transcriptional regulation. 30651074

2019
dbSNP: rs369404558
rs369404558
GLI1
0.010 GeneticVariation BEFREE p.E95K mutation in Indian hedgehog causing brachydactyly type A1 impairs IHH/Gli1 downstream transcriptional regulation. 30651074

2019
dbSNP: rs771470596
rs771470596
EDNRA
0.010 GeneticVariation BEFREE p.E95K mutation in Indian hedgehog causing brachydactyly type A1 impairs IHH/Gli1 downstream transcriptional regulation. 30651074

2019
dbSNP: rs1329735599
rs1329735599
BMPR1A
0.010 GeneticVariation BEFREE Functional studies, including chondrogenesis assays with primary mesenchymal cells, luciferase reporter gene assays and Surface Plasmon Resonance analysis, of the GDF5(W414R) variant in comparison to other GDF5 mutations associated with isolated BDA1 (p.R399C) or SYNS2 (p.E491K) revealed a dual pathomechanism characterized by a gain- and loss-of-function at the same time. 24098149

2013