Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1034395178
rs1034395178
LZTR1
A 0.700 CausalMutation CLINVAR Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. 29469822

2018
dbSNP: rs1555639076
rs1555639076
BPTF
G 0.700 CausalMutation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017
dbSNP: rs1057516048
rs1057516048
NSD1
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: rs760378316
rs760378316
KPNA7
A 0.700 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2016
dbSNP: rs797045140
rs797045140
IQSEC2
C 0.700 CausalMutation CLINVAR A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability. 26733290

2016
dbSNP: rs786200963
rs786200963
CACNA1A
T 0.700 GeneticVariation CLINVAR CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms. 25735478

2015
dbSNP: rs137854544
rs137854544
CTSA
A 0.700 CausalMutation CLINVAR Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis. 24769197

2014
dbSNP: rs875989777
rs875989777
CTSA
C 0.700 CausalMutation CLINVAR Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis. 24769197

2014
dbSNP: rs312262717
rs312262717
SPG11
C 0.700 CausalMutation CLINVAR SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration. 19194956

2009
dbSNP: rs137854544
rs137854544
CTSA
A 0.700 CausalMutation CLINVAR Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis. 10944848

2000
dbSNP: rs875989777
rs875989777
CTSA
C 0.700 CausalMutation CLINVAR Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis. 10944848

2000
dbSNP: rs137854544
rs137854544
CTSA
A 0.700 CausalMutation CLINVAR Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis. 8968752

1996
dbSNP: rs875989777
rs875989777
CTSA
C 0.700 CausalMutation CLINVAR Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis. 8968752

1996
dbSNP: rs104894396
rs104894396
GJB2
T 0.700 CausalMutation CLINVAR

dbSNP: rs1057516264
rs1057516264
TPP1
TC 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519369
rs1057519369
NF1
TG 0.700 CausalMutation CLINVAR

dbSNP: rs1057519429
rs1057519429
CACNA1A
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1060505029
rs1060505029
TAF13
T 0.700 CausalMutation CLINVAR

dbSNP: rs1060505030
rs1060505030
TAF13
T 0.700 CausalMutation CLINVAR

dbSNP: rs1064797103
rs1064797103
OTUD6B
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307845
rs1085307845
PHIP
T 0.700 GeneticVariation CLINVAR

dbSNP: rs121917929
rs121917929
SCN1A ; SCN1A-AS1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1239725461
rs1239725461
SCAPER
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1251778848
rs1251778848
KMT2D
A 0.700 CausalMutation CLINVAR

dbSNP: rs1554196416
rs1554196416
PHIP ; IRAK1BP1
A 0.700 CausalMutation CLINVAR