RAD21, RAD21 cohesin complex component, 5885

N. diseases: 192; N. variants: 19
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10098598
rs10098598
Entrez Id: 5885;84294
Gene Symbol: RAD21;UTP23
RAD21;UTP23
CUI: C0270496
Disease:
Schizoaffective disorder, bipolar type 		T 0.700 GeneticVariation GWASCAT Genome-wide association study identifies 30 loci associated with bipolar disorder. 31043756 2019
dbSNP: rs1301282588
rs1301282588
Entrez Id: 5885
Gene Symbol: RAD21
RAD21
CUI: C1853235
Disease:
Sclerocornea 		0.010 GeneticVariation BEFREE Although this variant causes RAD21 R450C substitution at the separase cleavage site, cells from peripheral sclerocornea family members had no mitosis and ploidy defects. 31781308 2019
dbSNP: rs1335072648
rs1335072648
Entrez Id: 5885
Gene Symbol: RAD21
RAD21
CUI: C3714756
Disease:
Intellectual Disability 		0.010 GeneticVariation BEFREE Five individuals carry a <i>STAG2</i> p.Ser327Asn (c.980 G > A) variant that perfectly cosegregates with a phenotype of syndromic mental retardation in a characteristic X-linked recessive pattern. 29263825 2017
dbSNP: rs1335072648
rs1335072648
Entrez Id: 5885
Gene Symbol: RAD21
RAD21
CUI: C0025362
Disease:
Mental Retardation 		0.010 GeneticVariation BEFREE Five individuals carry a <i>STAG2</i> p.Ser327Asn (c.980 G > A) variant that perfectly cosegregates with a phenotype of syndromic mental retardation in a characteristic X-linked recessive pattern. 29263825 2017
dbSNP: rs1554612093
rs1554612093
Entrez Id: 5885
Gene Symbol: RAD21
RAD21
CUI: C3553517
Disease:
CORNELIA DE LANGE SYNDROME 4 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1554612096
rs1554612096
Entrez Id: 5885
Gene Symbol: RAD21
RAD21
CUI: C3553517
Disease:
CORNELIA DE LANGE SYNDROME 4 		CAG 0.700 CausalMutation CLINVAR
dbSNP: rs1563686762
rs1563686762
Entrez Id: 5885;84294
Gene Symbol: RAD21;UTP23
RAD21;UTP23
CUI: C1853738
Disease:
Long eyelashes 		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: rs1563686762
rs1563686762
Entrez Id: 5885;84294
Gene Symbol: RAD21;UTP23
RAD21;UTP23
CUI: C0424731
Disease:
Single transverse palmar crease 		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: rs1563686762
rs1563686762
Entrez Id: 5885;84294
Gene Symbol: RAD21;UTP23
RAD21;UTP23
CUI: C0557874
Disease:
Global developmental delay 		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: rs1563686762
rs1563686762
Entrez Id: 5885;84294
Gene Symbol: RAD21;UTP23
RAD21;UTP23
CUI: C1868571
Disease:
Highly arched eyebrow 		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: rs1563686762
rs1563686762
Entrez Id: 5885;84294
Gene Symbol: RAD21;UTP23
RAD21;UTP23
CUI: C4023424
Disease:
Prominent digit pad 		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: rs1563686762
rs1563686762
Entrez Id: 5885;84294
Gene Symbol: RAD21;UTP23
RAD21;UTP23
CUI: C0025990
Disease:
Micrognathism 		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: rs1563686762
rs1563686762
Entrez Id: 5885;84294
Gene Symbol: RAD21;UTP23
RAD21;UTP23
CUI: C0744356
Disease:
Abnormality of the genital system 		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: rs1563686762
rs1563686762
Entrez Id: 5885;84294
Gene Symbol: RAD21;UTP23
RAD21;UTP23
CUI: C1857486
Disease:
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: rs1563686762
rs1563686762
Entrez Id: 5885;84294
Gene Symbol: RAD21;UTP23
RAD21;UTP23
CUI: C0431447
Disease:
Synophrys 		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: rs1563686762
rs1563686762
Entrez Id: 5885;84294
Gene Symbol: RAD21;UTP23
RAD21;UTP23
CUI: C4551563
Disease:
Microcephaly (physical finding) 		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: rs1563686762
rs1563686762
Entrez Id: 5885;84294
Gene Symbol: RAD21;UTP23
RAD21;UTP23
CUI: C1843367
Disease:
Poor school performance 		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: rs1563686762
rs1563686762
Entrez Id: 5885;84294
Gene Symbol: RAD21;UTP23
RAD21;UTP23
CUI: C4317146
Disease:
Acid reflux 		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: rs1563686762
rs1563686762
Entrez Id: 5885;84294
Gene Symbol: RAD21;UTP23
RAD21;UTP23
CUI: C0005745
Disease:
Blepharoptosis 		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: rs1563686762
rs1563686762
Entrez Id: 5885;84294
Gene Symbol: RAD21;UTP23
RAD21;UTP23
CUI: C0235833
Disease:
Congenital diaphragmatic hernia 		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: rs1563686762
rs1563686762
Entrez Id: 5885;84294
Gene Symbol: RAD21;UTP23
RAD21;UTP23
CUI: C3553517
Disease:
CORNELIA DE LANGE SYNDROME 4 		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: rs1563686762
rs1563686762
Entrez Id: 5885;84294
Gene Symbol: RAD21;UTP23
RAD21;UTP23
CUI: C0240635
Disease:
Byzanthine arch palate 		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: rs1563687901
rs1563687901
Entrez Id: 5885
Gene Symbol: RAD21
RAD21
CUI: C3553517
Disease:
CORNELIA DE LANGE SYNDROME 4 		TG 0.700 CausalMutation CLINVAR Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. 30158690 2019
dbSNP: rs1563689416
rs1563689416
Entrez Id: 5885
Gene Symbol: RAD21
RAD21
CUI: C3553517
Disease:
CORNELIA DE LANGE SYNDROME 4 		T 0.700 CausalMutation CLINVAR Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. 30158690 2019
dbSNP: rs16889040
rs16889040
Entrez Id: 5885
Gene Symbol: RAD21
RAD21
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.010 GeneticVariation BEFREE We found that 12 of the polymorphisms are associated with breast or breast and ovarian cancers, most notably rs16888927, rs16888997, and rs16889040, found in introns of RAD21, suggesting that SNPs in other genes in the DSBR pathway in addition to BRCA1 and BRCA2 may affect breast cancer risk. 19276285 2009