Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894040
rs104894040
SHH
0.800 GeneticVariation UNIPROT The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis. 19603532

2009
dbSNP: rs104894042
rs104894042
SHH
0.800 GeneticVariation UNIPROT The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis. 19603532

2009
dbSNP: rs104894043
rs104894043
SHH
0.800 GeneticVariation UNIPROT The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis. 19603532

2009
dbSNP: rs104894048
rs104894048
SHH
0.800 GeneticVariation UNIPROT The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis. 19603532

2009
dbSNP: rs104894050
rs104894050
SHH
0.800 GeneticVariation UNIPROT The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis. 19603532

2009
dbSNP: rs267607047
rs267607047
SHH
0.800 GeneticVariation UNIPROT The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis. 19603532

2009
dbSNP: rs104894040
rs104894040
SHH
0.800 GeneticVariation UNIPROT Holoprosencephaly-like phenotype: clinical and genetic perspectives. 17001669

2006
dbSNP: rs104894042
rs104894042
SHH
0.800 GeneticVariation UNIPROT Holoprosencephaly-like phenotype: clinical and genetic perspectives. 17001669

2006
dbSNP: rs104894043
rs104894043
SHH
0.800 GeneticVariation UNIPROT Holoprosencephaly-like phenotype: clinical and genetic perspectives. 17001669

2006
dbSNP: rs104894048
rs104894048
SHH
0.800 GeneticVariation UNIPROT Holoprosencephaly-like phenotype: clinical and genetic perspectives. 17001669

2006
dbSNP: rs104894050
rs104894050
SHH
0.800 GeneticVariation UNIPROT Holoprosencephaly-like phenotype: clinical and genetic perspectives. 17001669

2006
dbSNP: rs267607047
rs267607047
SHH
0.800 GeneticVariation UNIPROT Holoprosencephaly-like phenotype: clinical and genetic perspectives. 17001669

2006
dbSNP: rs104894040
rs104894040
SHH
0.800 GeneticVariation UNIPROT Molecular mechanisms of Sonic hedgehog mutant effects in holoprosencephaly. 16282375

2005
dbSNP: rs104894040
rs104894040
SHH
0.800 GeneticVariation UNIPROT SHH Ile111Asp in alobar holoprosencephaly in a proposita, whose mother had only a solitary median maxillary incisor. 15942952

2005
dbSNP: rs104894040
rs104894040
SHH
0.800 GeneticVariation UNIPROT Single median maxillary central incisor, hypophyseal tumor, and SHH mutation. 15942953

2005
dbSNP: rs104894042
rs104894042
SHH
0.800 GeneticVariation UNIPROT Molecular mechanisms of Sonic hedgehog mutant effects in holoprosencephaly. 16282375

2005
dbSNP: rs104894042
rs104894042
SHH
0.800 GeneticVariation UNIPROT Single median maxillary central incisor, hypophyseal tumor, and SHH mutation. 15942953

2005
dbSNP: rs104894042
rs104894042
SHH
0.800 GeneticVariation UNIPROT SHH Ile111Asp in alobar holoprosencephaly in a proposita, whose mother had only a solitary median maxillary incisor. 15942952

2005
dbSNP: rs104894043
rs104894043
SHH
0.800 GeneticVariation UNIPROT Molecular mechanisms of Sonic hedgehog mutant effects in holoprosencephaly. 16282375

2005
dbSNP: rs104894043
rs104894043
SHH
0.800 GeneticVariation UNIPROT SHH Ile111Asp in alobar holoprosencephaly in a proposita, whose mother had only a solitary median maxillary incisor. 15942952

2005
dbSNP: rs104894043
rs104894043
SHH
0.800 GeneticVariation UNIPROT Single median maxillary central incisor, hypophyseal tumor, and SHH mutation. 15942953

2005
dbSNP: rs104894048
rs104894048
SHH
0.800 GeneticVariation UNIPROT Single median maxillary central incisor, hypophyseal tumor, and SHH mutation. 15942953

2005
dbSNP: rs104894048
rs104894048
SHH
0.800 GeneticVariation UNIPROT Molecular mechanisms of Sonic hedgehog mutant effects in holoprosencephaly. 16282375

2005
dbSNP: rs104894048
rs104894048
SHH
0.800 GeneticVariation UNIPROT SHH Ile111Asp in alobar holoprosencephaly in a proposita, whose mother had only a solitary median maxillary incisor. 15942952

2005
dbSNP: rs104894050
rs104894050
SHH
0.800 GeneticVariation UNIPROT Single median maxillary central incisor, hypophyseal tumor, and SHH mutation. 15942953

2005