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: rs1060505034
rs1060505034 		1.000 5 82276483 missense variant C/T snv
CUI: C4479431
Disease: BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY
BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY 		0.800 1.000 1 2017 2017
dbSNP: rs658912
rs658912 		5 82316660 intron variant G/A snv 0.40
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018