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: rs117561482
rs117561482 		14 88584861 intron variant C/T snv 1.2E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs886037950
rs886037950 		1.000 14 88572606 stop gained C/T snv
CUI: C4310703
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 56
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 56 		0.700 0