Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894047
rs104894047
SHH
0.700 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: rs104894052
rs104894052
SHH
0.700 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: rs137853341
rs137853341
SHH
0.700 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: rs1412744230
rs1412744230
SHH
0.700 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: rs1428916820
rs1428916820
SHH
0.700 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: rs1554494372
rs1554494372
SHH
0.700 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: rs556192490
rs556192490
SHH
0.700 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: rs587778792
rs587778792
SHH
0.700 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: rs587778799
rs587778799
SHH
0.700 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: rs587778805
rs587778805
SHH
0.700 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: rs587778806
rs587778806
SHH
0.700 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: rs752650571
rs752650571
SHH
0.700 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: rs104894047
rs104894047
SHH
0.700 GeneticVariation UNIPROT Holoprosencephaly-like phenotype: clinical and genetic perspectives. 17001669

2006

dbSNP: rs104894052
rs104894052
SHH
0.700 GeneticVariation UNIPROT Holoprosencephaly-like phenotype: clinical and genetic perspectives. 17001669

2006

dbSNP: rs137853341
rs137853341
SHH
0.700 GeneticVariation UNIPROT Holoprosencephaly-like phenotype: clinical and genetic perspectives. 17001669

2006

dbSNP: rs1412744230
rs1412744230
SHH
0.700 GeneticVariation UNIPROT Holoprosencephaly-like phenotype: clinical and genetic perspectives. 17001669

2006

dbSNP: rs1428916820
rs1428916820
SHH
0.700 GeneticVariation UNIPROT Holoprosencephaly-like phenotype: clinical and genetic perspectives. 17001669

2006

dbSNP: rs1554494372
rs1554494372
SHH
0.700 GeneticVariation UNIPROT Holoprosencephaly-like phenotype: clinical and genetic perspectives. 17001669

2006

dbSNP: rs556192490
rs556192490
SHH
0.700 GeneticVariation UNIPROT Holoprosencephaly-like phenotype: clinical and genetic perspectives. 17001669

2006

dbSNP: rs587778792
rs587778792
SHH
0.700 GeneticVariation UNIPROT Holoprosencephaly-like phenotype: clinical and genetic perspectives. 17001669

2006

dbSNP: rs587778799
rs587778799
SHH
0.700 GeneticVariation UNIPROT Holoprosencephaly-like phenotype: clinical and genetic perspectives. 17001669

2006

dbSNP: rs587778805
rs587778805
SHH
0.700 GeneticVariation UNIPROT Holoprosencephaly-like phenotype: clinical and genetic perspectives. 17001669

2006

dbSNP: rs587778806
rs587778806
SHH
0.700 GeneticVariation UNIPROT Holoprosencephaly-like phenotype: clinical and genetic perspectives. 17001669

2006

dbSNP: rs752650571
rs752650571
SHH
0.700 GeneticVariation UNIPROT Holoprosencephaly-like phenotype: clinical and genetic perspectives. 17001669

2006

dbSNP: rs104894047
rs104894047
SHH
0.700 GeneticVariation UNIPROT SHH Ile111Asp in alobar holoprosencephaly in a proposita, whose mother had only a solitary median maxillary incisor. 15942952

2005