RAD21, RAD21 cohesin complex component, 5885

N. diseases: 192; N. variants: 19
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1563686762
rs1563686762 		0.790 0.280 8 116847620 inframe deletion GTT/- delins
CUI: C0744356
Disease: Abnormality of the genital system
Abnormality of the genital system 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1563686762
rs1563686762 		0.790 0.280 8 116847620 inframe deletion GTT/- delins
CUI: C4317146
Disease: Acid reflux
Acid reflux 		0.700 1.000 1 2019 2019
dbSNP: rs1563686762
rs1563686762 		0.790 0.280 8 116847620 inframe deletion GTT/- delins
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		Eye Diseases 0.700 1.000 1 2019 2019
dbSNP: rs16889040
rs16889040 		0.925 0.080 8 116866452 intron variant C/T snv 0.21
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1563686762
rs1563686762 		0.790 0.280 8 116847620 inframe deletion GTT/- delins
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs2289937
rs2289937 		0.882 0.080 8 116861572 intron variant G/A;C snv
CUI: C4048328
Disease: cervical cancer
cervical cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2018 2018
dbSNP: rs4570
rs4570 		0.882 0.080 8 116846150 3 prime UTR variant G/A snv 0.70
CUI: C4048328
Disease: cervical cancer
cervical cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2018 2018
dbSNP: rs4579555
rs4579555 		0.882 0.080 8 116867092 intron variant A/G snv
CUI: C4048328
Disease: cervical cancer
cervical cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2018 2018
dbSNP: rs2289937
rs2289937 		0.882 0.080 8 116861572 intron variant G/A;C snv
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2018 2018
dbSNP: rs4570
rs4570 		0.882 0.080 8 116846150 3 prime UTR variant G/A snv 0.70
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2018 2018
dbSNP: rs4579555
rs4579555 		0.882 0.080 8 116867092 intron variant A/G snv
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2018 2018
dbSNP: rs1563686762
rs1563686762 		0.790 0.280 8 116847620 inframe deletion GTT/- delins
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 1 2019 2019
dbSNP: rs1563686762
rs1563686762 		0.790 0.280 8 116847620 inframe deletion GTT/- delins
CUI: C3553517
Disease: CORNELIA DE LANGE SYNDROME 4
CORNELIA DE LANGE SYNDROME 4 		0.700 1.000 1 2019 2019
dbSNP: rs1563687901
rs1563687901 		1.000 8 116850687 frameshift variant -/G delins
CUI: C3553517
Disease: CORNELIA DE LANGE SYNDROME 4
CORNELIA DE LANGE SYNDROME 4 		0.700 1.000 1 2019 2019
dbSNP: rs1563689416
rs1563689416 		1.000 8 116854244 splice donor variant C/T snv
CUI: C3553517
Disease: CORNELIA DE LANGE SYNDROME 4
CORNELIA DE LANGE SYNDROME 4 		0.700 1.000 1 2019 2019
dbSNP: rs387907212
rs387907212 		1.000 8 116854279 missense variant G/C snv
CUI: C3553517
Disease: CORNELIA DE LANGE SYNDROME 4
CORNELIA DE LANGE SYNDROME 4 		0.800 1.000 1 2012 2012
dbSNP: rs387907213
rs387907213 		1.000 8 116847643 missense variant A/G snv
CUI: C3553517
Disease: CORNELIA DE LANGE SYNDROME 4
CORNELIA DE LANGE SYNDROME 4 		0.800 1.000 1 2012 2012
dbSNP: rs1554612093
rs1554612093 		1.000 8 116863196 stop gained T/A snv
CUI: C3553517
Disease: CORNELIA DE LANGE SYNDROME 4
CORNELIA DE LANGE SYNDROME 4 		0.700 0
dbSNP: rs1554612096
rs1554612096 		1.000 8 116863221 frameshift variant -/AG delins
CUI: C3553517
Disease: CORNELIA DE LANGE SYNDROME 4
CORNELIA DE LANGE SYNDROME 4 		0.700 0
dbSNP: rs797045907
rs797045907 		1.000 8 116866668 frameshift variant GCTAGCC/- delins
CUI: C3553517
Disease: CORNELIA DE LANGE SYNDROME 4
CORNELIA DE LANGE SYNDROME 4 		0.700 0
dbSNP: rs797045908
rs797045908 		1.000 8 116857375 frameshift variant -/T delins
CUI: C3553517
Disease: CORNELIA DE LANGE SYNDROME 4
CORNELIA DE LANGE SYNDROME 4 		0.700 0
dbSNP: rs797045909
rs797045909 		1.000 8 116857361 frameshift variant -/CT delins
CUI: C3553517
Disease: CORNELIA DE LANGE SYNDROME 4
CORNELIA DE LANGE SYNDROME 4 		0.700 0
dbSNP: rs863224910
rs863224910 		1.000 8 116847588 missense variant A/G snv
CUI: C3553517
Disease: CORNELIA DE LANGE SYNDROME 4
CORNELIA DE LANGE SYNDROME 4 		0.700 0
dbSNP: rs1563686762
rs1563686762 		0.790 0.280 8 116847620 inframe deletion GTT/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2019 2019
dbSNP: rs1563686762
rs1563686762 		0.790 0.280 8 116847620 inframe deletion GTT/- delins
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		0.700 1.000 1 2019 2019