Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555640521
rs1555640521
LAMA1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555736565
rs1555736565
CACNA1A
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555889127
rs1555889127
KCNB1 ; LOC105372649
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1557106484
rs1557106484
ATRX
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1557612048
rs1557612048
ARID1A
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1558373252
rs1558373252
SOX11 ; LINC01248
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1561273261
rs1561273261
KIF2A ; DIMT1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1561500885
rs1561500885
SMN1 ; SMN2
C 0.700 GeneticVariation CLINVAR Spinal muscular atrophy diagnostics. 17761649

2007
dbSNP: rs1562927768
rs1562927768
KMT2E
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1563221666
rs1563221666
SFTPC
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1564045331
rs1564045331
XPA
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1566785444
rs1566785444
IRF2BPL
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1567263168
rs1567263168
CREBBP
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1569525894
rs1569525894
SLC9A6
A 0.700 GeneticVariation CLINVAR

dbSNP: rs376754460
rs376754460
PMM2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs377619533
rs377619533
ASXL3
A 0.700 GeneticVariation CLINVAR

dbSNP: rs397514627
rs397514627
CAMK2G
G 0.700 GeneticVariation CLINVAR

dbSNP: rs587777623
rs587777623
DEAF1
A 0.700 GeneticVariation CLINVAR Identification of a syndrome comprising microcephaly and intellectual disability but not white matter disease associated with a homozygous c.676C>T p.R226W DEAF1 mutation. 26834045

2016
dbSNP: rs587777623
rs587777623
DEAF1
A 0.700 GeneticVariation CLINVAR Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly. 24668509

2014
dbSNP: rs587777623
rs587777623
DEAF1
A 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: rs587777623
rs587777623
DEAF1
A 0.700 GeneticVariation CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593

2016
dbSNP: rs587784347
rs587784347
PLA2G6
A 0.700 GeneticVariation CLINVAR

dbSNP: rs61753219
rs61753219
PEX6
A 0.700 GeneticVariation CLINVAR

dbSNP: rs749895856
rs749895856
CPT2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs755604487
rs755604487
PHIP
A 0.700 GeneticVariation CLINVAR