Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1131690789
rs1131690789
RBM10
C 0.700 CausalMutation CLINVAR

dbSNP: rs1281877795
rs1281877795
MTIF2
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1553535063
rs1553535063
NDUFB3
A 0.700 CausalMutation CLINVAR

dbSNP: rs1553878198
rs1553878198
RBPJ
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555605893
rs1555605893
SMARCE1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555918056
rs1555918056
BCOR
A 0.700 CausalMutation CLINVAR

dbSNP: rs1557189252
rs1557189252
FGD1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1563183469
rs1563183469
AUTS2
C 0.700 GeneticVariation CLINVAR

dbSNP: rs779617179
rs779617179
NRP2
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555564006
rs1555564006
EFTUD2
T 0.700 CausalMutation CLINVAR """Mandibulofacial dysostosis with microcephaly"" caused by EFTUD2 mutations: expanding the phenotype." 23239648

2013
dbSNP: rs1555564175
rs1555564175
EFTUD2
GA 0.700 CausalMutation CLINVAR """Mandibulofacial dysostosis with microcephaly"" caused by EFTUD2 mutations: expanding the phenotype." 23239648

2013
dbSNP: rs121918490
rs121918490
FGFR2
C 0.700 CausalMutation CLINVAR "Century of Jackson-Weiss syndrome: further definition of clinical and radiographic findings in ""lost"" descendants of the original kindred." 11343323

2001
dbSNP: rs1554928978
rs1554928978
FGFR2
G 0.700 GeneticVariation CLINVAR "Century of Jackson-Weiss syndrome: further definition of clinical and radiographic findings in ""lost"" descendants of the original kindred." 11343323

2001
dbSNP: rs1555039606
rs1555039606
KMT2A
C 0.700 CausalMutation CLINVAR "Hypertrichosis ""cubiti"" with facial asymmetry." 7802037

1994
dbSNP: rs1555046615
rs1555046615
KMT2A
G 0.700 CausalMutation CLINVAR "Hypertrichosis ""cubiti"" with facial asymmetry." 7802037

1994
dbSNP: rs1555047506
rs1555047506
KMT2A
C 0.700 CausalMutation CLINVAR "Hypertrichosis ""cubiti"" with facial asymmetry." 7802037

1994
dbSNP: rs781978013
rs781978013
KMT2A
T 0.700 CausalMutation CLINVAR "Hypertrichosis ""cubiti"" with facial asymmetry." 7802037

1994
dbSNP: rs782297546
rs782297546
KMT2A
A 0.700 CausalMutation CLINVAR "Hypertrichosis ""cubiti"" with facial asymmetry." 7802037

1994
dbSNP: rs1057519927
rs1057519927
PIK3CA
G 0.700 GeneticVariation CLINVAR "Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of ""PIK3CA-Related Overgrowth Spectrum""." 26593112

2016
dbSNP: rs1555625571
rs1555625571
TUBB3
C 0.700 CausalMutation CLINVAR β-Tubulin mutations that cause severe neuropathies disrupt axonal transport. 23503589

2013
dbSNP: rs753044214
rs753044214
BPTF
CA 0.700 CausalMutation CLINVAR 17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations. 22166941

2012
dbSNP: rs1057521083
rs1057521083
SATB2
A 0.700 GeneticVariation CLINVAR 4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate. 19576302

2010
dbSNP: rs1553551705
rs1553551705
SATB2
C 0.700 CausalMutation CLINVAR 4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate. 19576302

2010
dbSNP: rs1557179659
rs1557179659
FLNA
T 0.700 GeneticVariation CLINVAR 47 patients with FLNA associated periventricular nodular heterotopia. 26471271

2015
dbSNP: rs1555446980
rs1555446980
NR2F2 ; MIR1469
T 0.700 CausalMutation CLINVAR 5.78 Mb terminal deletion of chromosome 15q in a girl, evaluation of NR2F2 as candidate gene for congenital heart defects. 21172461

2011