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: rs1779774
rs1779774 		6 63500578 intergenic variant C/G;T snv
CUI: C0035242
Disease: Respiratory Tract Diseases
Respiratory Tract Diseases 		Respiratory Tract Diseases 0.700 1.000 1 2019 2019
dbSNP: rs2622274
rs2622274 		6 63530611 intron variant G/T snv 0.47
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs2622276
rs2622276 		6 63480373 non coding transcript exon variant A/G;T snv
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs1392714391
rs1392714391 		0.925 0.120 6 63285681 missense variant G/C;T snv 4.0E-06; 4.0E-06
CUI: C0023003
Disease: Langer-Giedion Syndrome
Langer-Giedion Syndrome 		Musculoskeletal Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1392714391
rs1392714391 		0.925 0.120 6 63285681 missense variant G/C;T snv 4.0E-06; 4.0E-06
CUI: C0238111
Disease: Lennox-Gastaut syndrome
Lennox-Gastaut syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2018 2018