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: rs778800
rs778800 		19 5900236 intron variant T/C snv 8.9E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs1348957889
rs1348957889 		1.000 19 5903607 splice region variant C/T snv
CUI: C4748777
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14 		0.700 0