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: rs4570
rs4570
0.882 0.080 8 116846150 3 prime UTR variant G/A snv 0.70
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
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: rs4570
rs4570
0.882 0.080 8 116846150 3 prime UTR variant G/A snv 0.70
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix
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: rs775266057
rs775266057
1.000 0.080 8 116847532 missense variant C/T snv 8.0E-06
CUI: C1969653
Disease: MUNGAN SYNDROME
MUNGAN SYNDROME
Digestive System Diseases; Neoplasms 0.800 1.000 1 2015 2015
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: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
0.700 1.000 1 2019 2019
dbSNP: rs1563686762
rs1563686762
0.790 0.280 8 116847620 inframe deletion GTT/- delins
CUI: C4023424
Disease: Prominent digit pad
Prominent digit pad
0.700 1.000 1 2019 2019
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: C1843367
Disease: Poor school performance
Poor school performance
0.700 1.000 1 2019 2019
dbSNP: rs1563686762
rs1563686762
0.790 0.280 8 116847620 inframe deletion GTT/- delins
CUI: C0025990
Disease: Micrognathism
Micrognathism
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic 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: C3553517
Disease: CORNELIA DE LANGE SYNDROME 4
CORNELIA DE LANGE SYNDROME 4
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
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: rs1563686762
rs1563686762
0.790 0.280 8 116847620 inframe deletion GTT/- delins
CUI: C1853738
Disease: Long eyelashes
Long eyelashes
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: rs1563686762
rs1563686762
0.790 0.280 8 116847620 inframe deletion GTT/- delins
CUI: C0424731
Disease: Single transverse palmar crease
Single transverse palmar crease
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: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears
0.700 1.000 1 2019 2019
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: C0431447
Disease: Synophrys
Synophrys
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 1 2019 2019
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: 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: rs10098598
rs10098598
1.000 0.040 8 116848536 intron variant C/T snv 1.6E-02
Schizoaffective disorder, bipolar type
Mental Disorders 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