Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553284997
rs1553284997
RPL5 ; DIPK1A
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1553621496
rs1553621496
UNC80
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555743003
rs1555743003
ASXL3
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		A 0.700 CausalMutation CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689

2016
dbSNP: rs1557106484
rs1557106484
ATRX
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1559662068
rs1559662068
BRPF1
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1563686762
rs1563686762
RAD21 ; UTP23
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		C 0.700 GeneticVariation CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677

2019
dbSNP: rs1565329461
rs1565329461
DYNC2H1
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1565679039
rs1565679039
COL2A1
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		A 0.700 CausalMutation CLINVAR

dbSNP: rs180177039
rs180177039
BRAF
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs267607079
rs267607079
SOS1
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		G 0.700 CausalMutation CLINVAR

dbSNP: rs387907141
rs387907141
ARID1B
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		T 0.700 CausalMutation CLINVAR

dbSNP: rs387907144
rs387907144
ARID1B
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		T 0.700 CausalMutation CLINVAR Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. 26350204

2015
dbSNP: rs387907144
rs387907144
ARID1B
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		T 0.700 CausalMutation CLINVAR Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. 22426309

2012
dbSNP: rs397507531
rs397507531
PTPN11
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		C 0.700 CausalMutation CLINVAR

dbSNP: rs397517148
rs397517148
SOS1
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		T 0.700 CausalMutation CLINVAR

dbSNP: rs66527965
rs66527965
COL1A1
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		T 0.700 CausalMutation CLINVAR

dbSNP: rs77078070
rs77078070
KLHL7
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs796052505
rs796052505
GABRG2
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		A 0.700 CausalMutation CLINVAR

dbSNP: rs80338796
rs80338796
RAF1
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		A 0.700 CausalMutation CLINVAR

dbSNP: rs876657380
rs876657380
ARID1B
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		C 0.700 CausalMutation CLINVAR