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: rs1048303
rs1048303 		7 101160859 3 prime UTR variant C/T snv 0.54
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs2074683
rs2074683 		7 101160333 intron variant C/T snv 0.54
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs751430853
rs751430853 		1.000 0.080 7 101157375 splice acceptor variant A/G snv 2.2E-05 7.0E-06
CUI: C1836330
Disease: ERYTHROKERATODERMIA VARIABILIS 3 (disorder)
ERYTHROKERATODERMIA VARIABILIS 3 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0