Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894419
rs104894419
LIG4
A 0.700 CausalMutation CLINVAR Extreme growth failure is a common presentation of ligase IV deficiency. 24123394

2014
dbSNP: rs587779349
rs587779349
BRCA2
G 0.700 CausalMutation CLINVAR Genomic analysis of primordial dwarfism reveals novel disease genes. 24389050

2014
dbSNP: rs587779351
rs587779351
XRCC4
C 0.700 CausalMutation CLINVAR Genomic analysis of primordial dwarfism reveals novel disease genes. 24389050

2014
dbSNP: rs759838407
rs759838407
LIG4
C 0.700 CausalMutation CLINVAR Extreme growth failure is a common presentation of ligase IV deficiency. 24123394

2014
dbSNP: rs104894419
rs104894419
LIG4
A 0.700 CausalMutation CLINVAR DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. 11779494

2001
dbSNP: rs1010184002
rs1010184002
PEX6
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1481733213
rs1481733213
ATR
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1553761113
rs1553761113
ATR
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1566902569
rs1566902569
FBN1
A 0.700 CausalMutation CLINVAR

dbSNP: rs397514487
rs397514487
POC1A
A 0.700 GeneticVariation CLINVAR

dbSNP: rs587777614
rs587777614
DNA2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs587779348
rs587779348
CRIPT
A 0.700 CausalMutation CLINVAR

dbSNP: rs587779356
rs587779356
CRIPT
AGG 0.700 CausalMutation CLINVAR

dbSNP: rs61753219
rs61753219
PEX6
A 0.700 GeneticVariation CLINVAR

dbSNP: rs28931614
rs28931614
FGFR3
0.060 GeneticVariation BEFREE The G380R mutation in the transmembrane domain of FGFR3 is a germline mutation responsible for most cases of Achondroplasia, a common form of human dwarfism. 27040652

2016
dbSNP: rs28931614
rs28931614
FGFR3
0.060 GeneticVariation BEFREE The Gly380Arg mutation in FGFR3 is the genetic cause for achondroplasia (ACH), the most common form of human dwarfism. 23056398

2012
dbSNP: rs28931614
rs28931614
FGFR3
0.060 GeneticVariation BEFREE The G380R mutation in the transmembrane domain of fibroblast growth factor receptor 3 (FGFR3) causes achondroplasia, the most common form of human dwarfism. 21324899

2011
dbSNP: rs28931614
rs28931614
FGFR3
0.060 GeneticVariation BEFREE The G380R mutation in FGFR3 transmembrane domain is known as the genetic cause for achondroplasia, the most common form of human dwarfism. 20624921

2010
dbSNP: rs28931614
rs28931614
FGFR3
0.060 GeneticVariation BEFREE The Gly380 --> Arg mutation in the TM domain of fibroblast growth factor receptor 3 (FGFR3) of the RTK family is linked to achondroplasia, the most common form of human dwarfism. 16634636

2006
dbSNP: rs28931614
rs28931614
FGFR3
0.060 GeneticVariation BEFREE Achondroplasia, the most common form of dwarfism in man, is a dominant genetic disorder caused by a point mutation (G380R) in the transmembrane region of fibroblast growth factor receptor 3 (FGFR3). 10200283

1999
dbSNP: rs3782886
rs3782886
BRAP
0.020 GeneticVariation BEFREE SNP (rs3782886) was shown to be associated with high platelet count and short stature. 31043174

2019
dbSNP: rs3782886
rs3782886
BRAP
0.020 GeneticVariation BEFREE We also found that independent of known cardiovascular risk factors, with the non-minor homo of rs3782886 taken as the reference group, the adjusted OR and 95% CI for short stature and reduced MTP of the minor homo allele were 3.06 (1.23, 7.63) and 3.26 (1.33, 8.03), respectively. 29165153

2017
dbSNP: rs75790268
rs75790268
FGFR3
0.020 GeneticVariation BEFREE Two mutations in FGFR3, G380R and G375C are known to cause achondroplasia, the most common form of human dwarfism. 22529939

2012
dbSNP: rs121913479
rs121913479
FGFR3
0.020 GeneticVariation BEFREE One such disorder, thanatophoric dysplasia, the most common form of sporadic, lethal dwarfism, is associated frequently with cysteine substitutions (G370C, S371C, and Y373C) in the extracellular juxtamembrane region of the receptor. 12009017

2002
dbSNP: rs121913479
rs121913479
FGFR3
0.020 GeneticVariation BEFREE Here we show that a glycine-to-cysteine substitution at position 375 (Gly375Cys) in human FGFR3 causes ligand-independent dimerization and phosphorylation of FGFR3 and that the equivalent substitution at position 369 (Gly369Cys) in mouse FGFR3 causes dwarfism with features mimicking human achondroplasia. 10587515

1999