Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs763028380
rs763028380
ABCC8
A 0.700 GeneticVariation CLINVAR

dbSNP: rs767961672
rs767961672
FOXG1
T 0.700 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
dbSNP: rs778899140
rs778899140
PDE10A
C 0.700 GeneticVariation CLINVAR

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

2017
dbSNP: rs780533096
rs780533096
MIPEP
T 0.700 GeneticVariation CLINVAR

dbSNP: rs796052243
rs796052243
SPATA5
T 0.700 GeneticVariation CLINVAR

dbSNP: rs797044849
rs797044849
GRIN2B
G 0.700 GeneticVariation CLINVAR

dbSNP: rs864309505
rs864309505
TPP1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs878853165
rs878853165
MAST1 ; HOOK2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs878853325
rs878853325
PPT1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs878855331
rs878855331
TPP1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs879253887
rs879253887
IGHMBP2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs886039812
rs886039812
DYNC2H1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs886041095
rs886041095
GRIN2B
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1034395178
rs1034395178
LZTR1
A 0.700 CausalMutation CLINVAR Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. 29469822

2018
dbSNP: rs1057516031
rs1057516031
MTM1
T 0.700 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
dbSNP: rs1057516032
rs1057516032
ATP1A3
GA 0.700 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
dbSNP: rs1057516033
rs1057516033
KAT6B
A 0.700 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
dbSNP: rs1057518345
rs1057518345
ADNP
C 0.700 CausalMutation CLINVAR

dbSNP: rs1057518879
rs1057518879
PLOD1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057519389
rs1057519389
EBF3
T 0.700 CausalMutation CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372

2017
dbSNP: rs1057519389
rs1057519389
EBF3
A 0.700 CausalMutation CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372

2017
dbSNP: rs1057519437
rs1057519437
EBF3
T 0.700 CausalMutation CLINVAR

dbSNP: rs1057519443
rs1057519443
MPP4
G 0.700 CausalMutation CLINVAR

dbSNP: rs1057519444
rs1057519444
SYN3
AA 0.700 CausalMutation CLINVAR