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: 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: rs16889040
rs16889040
0.925 0.080 8 116866452 intron variant C/T snv 0.21
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
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: 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: 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: rs1335072648
rs1335072648
1.000 0.200 8 116854423 missense variant C/T snv 4.0E-06
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2017 2017
dbSNP: rs1335072648
rs1335072648
1.000 0.200 8 116854423 missense variant C/T snv 4.0E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2017 2017
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: rs2289937
rs2289937
0.882 0.080 8 116861572 intron variant G/A;C snv
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: rs2289937
rs2289937
0.882 0.080 8 116861572 intron variant G/A;C snv
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.010 1.000 1 2018 2018
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: 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: rs4579555
rs4579555
0.882 0.080 8 116867092 intron variant A/G snv
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: 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: 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: rs4579555
rs4579555
0.882 0.080 8 116867092 intron variant A/G snv
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.010 1.000 1 2018 2018