GNAS, GNAS complex locus, 2778

N. diseases: 536; N. variants: 61
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518907
rs1057518907
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0221357
Disease:
Brachydactyly
T 0.700 CausalMutation CLINVAR
dbSNP: rs137854539
rs137854539
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0221357
Disease:
Brachydactyly
T 0.700 GeneticVariation CLINVAR
dbSNP: rs77096466
rs77096466
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0221357
Disease:
Brachydactyly
0.010 GeneticVariation BEFREE Here, we describe a young female with a bilateral Madelung deformity, mild cognitive disability, some dysmorphic facial features, and a type E-like brachydactyly, in whom we identified a novel and de novo mutation (c.476T>C; p.Val159Ala) in exon 6 of the GNAS gene. 21910239 2011