Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518868
rs1057518868
FOXF1 ; FENDRR
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518914
rs1057518914
RPS6KA3
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1114167294
rs1114167294
FOXP4
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1334099693
rs1334099693
SOX4
A 0.700 GeneticVariation CLINVAR De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism. 30661772

2019
dbSNP: rs142239530
rs142239530
STIM1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1554643168
rs1554643168
PUF60
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554643168
rs1554643168
PUF60
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555564126
rs1555564126
EFTUD2
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1557612048
rs1557612048
ARID1A
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1564062144
rs1564062144
HNRNPK
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1565569158
rs1565569158
ATN1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs180177039
rs180177039
BRAF
C 0.700 GeneticVariation CLINVAR

dbSNP: rs431905509
rs431905509
SLC25A1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs746800707
rs746800707
AAR2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs755246809
rs755246809
AHI1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs759125480
rs759125480
CEP120
A 0.700 GeneticVariation CLINVAR

dbSNP: rs143044921
rs143044921
FREM2
A 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs61729366
rs61729366
FRAS1
A 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs1057516039
rs1057516039
KMT2D
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: rs1057516047
rs1057516047
TTC7A ; STPG4
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: rs113331868
rs113331868
CAMK2A
T 0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017
dbSNP: rs1163944538
rs1163944538
TMEM94
GA 0.700 CausalMutation CLINVAR

dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
T 0.700 CausalMutation CLINVAR New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis. 15596759

2004
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
T 0.700 CausalMutation CLINVAR [The construction and preliminary investigation of the cell model of a novel mutation R675Q in the SCN4A gene identified in a Chinese family with normokalemic periodic paralysis]. 19065518

2008
dbSNP: rs121918455
rs121918455
PTPN11
G 0.700 CausalMutation CLINVAR