MAD2L1BP, MAD2L1 binding protein, 9587

N. diseases: 61; N. variants: 6
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: rs35679149
rs35679149
6 43636430 missense variant A/C;G snv 4.0E-06; 1.8E-02
CUI: C1305855
Disease: Body mass index
Body mass index
0.700 1.000 2 2019 2019
dbSNP: rs1430414164
rs1430414164
1.000 0.080 6 43636404 missense variant G/A snv
Congenital hypomyelinating neuropathy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs201573646
rs201573646
6 43640526 missense variant G/A snv 1.0E-04 1.4E-05
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs201573646
rs201573646
6 43640526 missense variant G/A snv 1.0E-04 1.4E-05
CUI: C0030552
Disease: Paresis
Paresis
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs530552002
rs530552002
1.000 0.080 6 43636471 missense variant C/T snv 4.0E-06
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 1998 1998
dbSNP: rs765108575
rs765108575
1.000 0.080 6 43636483 missense variant G/A snv 4.0E-06; 4.0E-06 1.4E-05
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 1998 1998
dbSNP: rs771096255
rs771096255
1.000 0.040 6 43640312 missense variant G/A snv 8.0E-06
CUI: C0270921
Disease: Axonal neuropathy
Axonal neuropathy
Nervous System Diseases 0.010 1.000 1 2019 2019