GNAS-AS1, GNAS antisense RNA 1, 149775

N. diseases: 22; N. variants: 8
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs142530265
rs142530265
Entrez Id: 149775
Gene Symbol: GNAS-AS1
GNAS-AS1
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340 2019
dbSNP: rs1555868362
rs1555868362
Entrez Id: 2778;149775
Gene Symbol: GNAS;GNAS-AS1
GNAS;GNAS-AS1
CUI: C0432072
Disease:
Dysmorphic features 		CA 0.700 CausalMutation CLINVAR Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield. 27431290 2017
dbSNP: rs3761263
rs3761263
Entrez Id: 2778;149775
Gene Symbol: GNAS;GNAS-AS1
GNAS;GNAS-AS1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		T 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs6064714
rs6064714
Entrez Id: 2778;149775
Gene Symbol: GNAS;GNAS-AS1
GNAS;GNAS-AS1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		A 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs6128441
rs6128441
Entrez Id: 149775
Gene Symbol: GNAS-AS1
GNAS-AS1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		G 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs79067846
rs79067846
Entrez Id: 2778;149775
Gene Symbol: GNAS;GNAS-AS1
GNAS;GNAS-AS1
CUI: C3828530
Disease:
Platelet Component Distribution Width Measurement 		C 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs1555868362
rs1555868362
Entrez Id: 2778;149775
Gene Symbol: GNAS;GNAS-AS1
GNAS;GNAS-AS1
CUI: C0432072
Disease:
Dysmorphic features 		CA 0.700 CausalMutation CLINVAR A positive genotype-phenotype correlation in a large cohort of patients with Pseudohypoparathyroidism Type Ia and Pseudo-pseudohypoparathyroidism and 33 newly identified mutations in the GNAS gene. 25802881 2015
dbSNP: rs1555868362
rs1555868362
Entrez Id: 2778;149775
Gene Symbol: GNAS;GNAS-AS1
GNAS;GNAS-AS1
CUI: C0432072
Disease:
Dysmorphic features 		CA 0.700 CausalMutation CLINVAR Paternal GNAS mutations lead to severe intrauterine growth retardation (IUGR) and provide evidence for a role of XLαs in fetal development. 23884777 2013
dbSNP: rs1555868362
rs1555868362
Entrez Id: 2778;149775
Gene Symbol: GNAS;GNAS-AS1
GNAS;GNAS-AS1
CUI: C0432072
Disease:
Dysmorphic features 		CA 0.700 CausalMutation CLINVAR Pseudohypoparathyroidism type Ia and pseudo-pseudohypoparathyroidism: the growing spectrum of GNAS inactivating mutations. 23281139 2013
dbSNP: rs1555868362
rs1555868362
Entrez Id: 2778;149775
Gene Symbol: GNAS;GNAS-AS1
GNAS;GNAS-AS1
CUI: C0432072
Disease:
Dysmorphic features 		CA 0.700 CausalMutation CLINVAR Compound heterozygous mutations in the GNAS gene of a boy with morbid obesity, thyroid-stimulating hormone resistance, pseudohypoparathyroidism, and a prothrombotic state. 18796523 2008
dbSNP: rs1555868362
rs1555868362
Entrez Id: 2778;149775
Gene Symbol: GNAS;GNAS-AS1
GNAS;GNAS-AS1
CUI: C0432072
Disease:
Dysmorphic features 		CA 0.700 CausalMutation CLINVAR Mutations in the Gs alpha gene causing hormone resistance. 17161328 2006
dbSNP: rs1555868362
rs1555868362
Entrez Id: 2778;149775
Gene Symbol: GNAS;GNAS-AS1
GNAS;GNAS-AS1
CUI: C0432072
Disease:
Dysmorphic features 		CA 0.700 CausalMutation CLINVAR Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS. 14561710 2003
dbSNP: rs1555868362
rs1555868362
Entrez Id: 2778;149775
Gene Symbol: GNAS;GNAS-AS1
GNAS;GNAS-AS1
CUI: C0432072
Disease:
Dysmorphic features 		CA 0.700 CausalMutation CLINVAR Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy. 11600516 2001
dbSNP: rs1555868362
rs1555868362
Entrez Id: 2778;149775
Gene Symbol: GNAS;GNAS-AS1
GNAS;GNAS-AS1
CUI: C0432072
Disease:
Dysmorphic features 		CA 0.700 CausalMutation CLINVAR Activating and inactivating mutations in the human GNAS1 gene. 10980525 2000
dbSNP: rs1555868362
rs1555868362
Entrez Id: 2778;149775
Gene Symbol: GNAS;GNAS-AS1
GNAS;GNAS-AS1
CUI: C0432072
Disease:
Dysmorphic features 		CA 0.700 CausalMutation CLINVAR Imprinting in Albright's hereditary osteodystrophy. 8383205 1993
dbSNP: rs371055001
rs371055001
Entrez Id: 2778;149775
Gene Symbol: GNAS;GNAS-AS1
GNAS;GNAS-AS1
CUI: C3494506
Disease:
Pseudohypoparathyroidism, Type Ia 		0.010 GeneticVariation BEFREE A new heterozygous mutation (D196N) in the Gs alpha gene as a cause for pseudohypoparathyroidism type IA in a boy who had gallstones. 21823526 2011
dbSNP: rs371055001
rs371055001
Entrez Id: 2778;149775
Gene Symbol: GNAS;GNAS-AS1
GNAS;GNAS-AS1
CUI: C0947622
Disease:
Cholecystolithiasis 		0.010 GeneticVariation BEFREE A new heterozygous mutation (D196N) in the Gs alpha gene as a cause for pseudohypoparathyroidism type IA in a boy who had gallstones. 21823526 2011
dbSNP: rs371055001
rs371055001
Entrez Id: 2778;149775
Gene Symbol: GNAS;GNAS-AS1
GNAS;GNAS-AS1
CUI: C0008350
Disease:
Cholelithiasis 		0.010 GeneticVariation BEFREE A new heterozygous mutation (D196N) in the Gs alpha gene as a cause for pseudohypoparathyroidism type IA in a boy who had gallstones. 21823526 2011
dbSNP: rs1131691907
rs1131691907
Entrez Id: 2778;149775
Gene Symbol: GNAS;GNAS-AS1
GNAS;GNAS-AS1
CUI: C1704356
Disease:
Enchondroma 		0.010 GeneticVariation BEFREE Two mutations (p.G121E, p.A122T) were present only in enchondromas, and one (p.R255H) in both enchondroma and leukocyte DNA. 18559376 2008