Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1010184002
rs1010184002
PEX6
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516040
rs1057516040
NALCN
C 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: rs1057518786
rs1057518786
SYNGAP1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518794
rs1057518794
ARX
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518845
rs1057518845
SOX5 ; LOC105369696
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518928
rs1057518928
SOX5
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519429
rs1057519429
CACNA1A
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057524157
rs1057524157
DEAF1
T 0.700 GeneticVariation CLINVAR Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. 28940898

2017
dbSNP: rs1057524157
rs1057524157
DEAF1
T 0.700 GeneticVariation CLINVAR Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants. 28213671

2017
dbSNP: rs1064795559
rs1064795559
MORC2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307845
rs1085307845
PHIP
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1131691771
rs1131691771
PHIP ; IRAK1BP1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1135401746
rs1135401746
GNB1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1164484724
rs1164484724
MAN1B1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs12720458
rs12720458
KCNQ1
G 0.700 GeneticVariation CLINVAR

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

dbSNP: rs1425998598
rs1425998598
BPTF
A 0.700 GeneticVariation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017
dbSNP: rs145999922
rs145999922
SLC19A3
G 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: rs1553511224
rs1553511224
TBR1
TC 0.700 GeneticVariation CLINVAR

dbSNP: rs1553525325
rs1553525325
SCN1A ; SCN1A-AS1 ; LOC102724058
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1554301637
rs1554301637
LAMA2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1554558365
rs1554558365
TMEM67
AATGAAT 0.700 GeneticVariation CLINVAR

dbSNP: rs1554700718
rs1554700718
HNRNPK
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555497604
rs1555497604
COG7
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555570093
rs1555570093
MPDU1
A 0.700 GeneticVariation CLINVAR