Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1559155954
rs1559155954
OBSL1
CA 0.700 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518

2019
dbSNP: rs1561873941
rs1561873941
CUL7
C 0.700 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518

2019
dbSNP: rs1561892336
rs1561892336
CUL7 ; KLC4
T 0.700 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518

2019
dbSNP: rs1561898352
rs1561898352
CUL7 ; KLC4
CA 0.700 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518

2019
dbSNP: rs760929207
rs760929207
OBSL1
G 0.700 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518

2019
dbSNP: rs1554333853
rs1554333853
CDK13
G 0.700 GeneticVariation CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008

2017
dbSNP: rs779027563
rs779027563
CNTNAP1
C 0.700 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699

2017
dbSNP: rs121909574
rs121909574
TFAP2A ; TFAP2A-AS2
C 0.700 CausalMutation CLINVAR A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A. 25590586

2015
dbSNP: rs1010184002
rs1010184002
PEX6
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518812
rs1057518812
FBN1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057518879
rs1057518879
PLOD1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057518891
rs1057518891
CHD7
T 0.700 CausalMutation CLINVAR

dbSNP: rs1057519389
rs1057519389
EBF3
T 0.700 CausalMutation CLINVAR

dbSNP: rs1163944538
rs1163944538
TMEM94
GA 0.700 CausalMutation CLINVAR

dbSNP: rs1232880706
rs1232880706
FBN1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1276519904
rs1276519904
H3-3A
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1352010373
rs1352010373
TMEM94
C 0.700 CausalMutation CLINVAR

dbSNP: rs1553544133
rs1553544133
SATB2
C 0.700 CausalMutation CLINVAR

dbSNP: rs1555398673
rs1555398673
FBN1
G 0.700 CausalMutation CLINVAR

dbSNP: rs1555928716
rs1555928716
RPS6KA3
A 0.700 CausalMutation CLINVAR

dbSNP: rs1566911709
rs1566911709
FBN1
C 0.700 CausalMutation CLINVAR

dbSNP: rs1567010427
rs1567010427
DYNC1H1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs587777893
rs587777893
MTOR
A 0.700 CausalMutation CLINVAR

dbSNP: rs61753219
rs61753219
PEX6
A 0.700 GeneticVariation CLINVAR

dbSNP: rs730882244
rs730882244
FAM177A1
TA 0.700 GeneticVariation CLINVAR