Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518345
rs1057518345
ADNP
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1057518864
rs1057518864
TCF4
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1057524157
rs1057524157
DEAF1
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		T 0.700 GeneticVariation CLINVAR Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants. 28213671

2017
dbSNP: rs1057524157
rs1057524157
DEAF1
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		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: rs1085307845
rs1085307845
PHIP
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1131691771
rs1131691771
PHIP ; IRAK1BP1
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs121918467
rs121918467
PTPN11
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1334099693
rs1334099693
SOX4
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		A 0.700 GeneticVariation CLINVAR De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism. 30661772

2019
dbSNP: rs142110773
rs142110773
DDC ; FIGNL1
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1554210073
rs1554210073
PHIP
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1554617582
rs1554617582
TRPS1
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		CA 0.700 CausalMutation CLINVAR

dbSNP: rs1554700718
rs1554700718
HNRNPK
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1560755661
rs1560755661
TBCK
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1562114190
rs1562114190
PHIP ; IRAK1BP1
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1562171209
rs1562171209
PHIP
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1562203136
rs1562203136
PHIP
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		CT 0.700 CausalMutation CLINVAR

dbSNP: rs199469465
rs199469465
SRCAP
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		T 0.700 CausalMutation CLINVAR

dbSNP: rs387907144
rs387907144
ARID1B
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		T 0.700 CausalMutation CLINVAR Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. 26350204

2015
dbSNP: rs387907144
rs387907144
ARID1B
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		T 0.700 CausalMutation CLINVAR Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. 22426309

2012
dbSNP: rs587783446
rs587783446
CHD7
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		T 0.700 CausalMutation CLINVAR

dbSNP: rs672601334
rs672601334
RIT1
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		C 0.700 CausalMutation CLINVAR

dbSNP: rs730881014
rs730881014
RIT1
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		T 0.700 CausalMutation CLINVAR

dbSNP: rs867410737
rs867410737
ATP5F1D
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		T 0.700 CausalMutation CLINVAR Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. 29478781

2018
dbSNP: rs886043994
rs886043994
ASXL1
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		T 0.700 CausalMutation CLINVAR