rs587777618, CCND2

N. diseases: 4
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3
CUI: C4014742
Disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3
6 0.925 12 4299977 missense variant A/G snv 0.800 1.000 1 2014 2014
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.925 12 4299977 missense variant A/G snv 0.700 1.000 13 2004 2018
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
247 0.925 12 4299977 missense variant A/G snv 0.700 1.000 13 2004 2018
Overgrowth
CUI: C1849265
Disease: Overgrowth
93 0.925 12 4299977 missense variant A/G snv 0.700 1.000 13 2004 2018