RIMBP2, RIMS binding protein 2, 23504

N. diseases: 4; N. variants: 5
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: rs11060928
rs11060928 		1.000 0.040 12 130475482 intron variant A/G snv 1.7E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs2292664
rs2292664 		12 130437119 missense variant G/A;C snv 9.2E-06; 5.3E-04
CUI: C0023980
Disease: Longevity
Longevity 		0.700 1.000 1 2015 2015
dbSNP: rs4759753
rs4759753 		1.000 0.080 12 130680088 intron variant A/C;G;T snv
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 1.000 1 2009 2009
dbSNP: rs884255
rs884255 		1.000 0.040 12 130477646 intron variant C/A snv 0.42
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs884256
rs884256 		1.000 0.040 12 130477432 intron variant A/G snv 0.27
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017