MAD2L2, mitotic arrest deficient 2 like 2, 10459

N. diseases: 144; N. variants: 3
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: rs2336030
rs2336030 		1 11676543 intron variant C/T snv 0.25
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2012 2012
dbSNP: rs1057517674
rs1057517674 		0.925 0.040 1 11676926 missense variant A/T snv
CUI: C4310652
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP V
FANCONI ANEMIA, COMPLEMENTATION GROUP V 		0.700 0
dbSNP: rs1057517674
rs1057517674 		0.925 0.040 1 11676926 missense variant A/T snv
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2233004
rs2233004 		0.925 0.080 1 11682017 splice acceptor variant C/G;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2233004
rs2233004 		0.925 0.080 1 11682017 splice acceptor variant C/G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011