Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1034395178
rs1034395178
LZTR1
A 0.700 CausalMutation CLINVAR Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. 29469822

2018
dbSNP: rs1554022725
rs1554022725
UFSP2 ; C4orf47
G 0.700 CausalMutation CLINVAR Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation. 28892125

2018
dbSNP: rs1555639076
rs1555639076
BPTF
G 0.700 CausalMutation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017
dbSNP: rs864309488
rs864309488
GMNN
G 0.700 GeneticVariation CLINVAR De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 26637980

2015
dbSNP: rs431905504
rs431905504
SLC6A3
T 0.700 CausalMutation CLINVAR Genetic mapping and exome sequencing identify variants associated with five novel diseases. 22279524

2012
dbSNP: rs1057518908
rs1057518908
COL2A1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs121434341
rs121434341
CHD7
T 0.700 CausalMutation CLINVAR

dbSNP: rs1247665387
rs1247665387
FA2H
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1554700678
rs1554700678
HNRNPK
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555968941
rs1555968941
CACNA1C
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1569518070
rs1569518070
COL6A1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs796052243
rs796052243
SPATA5
T 0.700 GeneticVariation CLINVAR

dbSNP: rs796052505
rs796052505
GABRG2
A 0.700 CausalMutation CLINVAR

dbSNP: rs763098832
rs763098832
COMP
0.010 GeneticVariation BEFREE Follow-up with whole-exome sequencing analysis revealed a mutation c.2032G>A (p.Gly678Arg) in the COL2A1 gene (NCBI Reference Sequence: NM_001844.4), which co-segregated with the disease phenotype in this family, manifested by severe hip dysplasia and osteoarthritis. 30740902

2019
dbSNP: rs764256352
rs764256352
SLC26A2
0.010 GeneticVariation BEFREE Follow-up with whole-exome sequencing analysis revealed a mutation c.2032G>A (p.Gly678Arg) in the COL2A1 gene (NCBI Reference Sequence: NM_001844.4), which co-segregated with the disease phenotype in this family, manifested by severe hip dysplasia and osteoarthritis. 30740902

2019
dbSNP: rs867986409
rs867986409
COMP
0.010 GeneticVariation BEFREE Follow-up with whole-exome sequencing analysis revealed a mutation c.2032G>A (p.Gly678Arg) in the COL2A1 gene (NCBI Reference Sequence: NM_001844.4), which co-segregated with the disease phenotype in this family, manifested by severe hip dysplasia and osteoarthritis. 30740902

2019