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: rs1554884979
rs1554884979 		1.000 10 87814438 missense variant C/G snv
CUI: C4693933
Disease: HYPEREKPLEXIA 4
HYPEREKPLEXIA 4 		0.700 1.000 3 2017 2018
dbSNP: rs1554874859
rs1554874859 		1.000 10 87767678 stop gained C/A snv
CUI: C4693933
Disease: HYPEREKPLEXIA 4
HYPEREKPLEXIA 4 		0.700 1.000 1 2017 2017
dbSNP: rs17101804
rs17101804 		10 87839992 intron variant T/G snv 5.5E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs751499706
rs751499706 		1.000 10 87754702 frameshift variant AT/- del 7.0E-06
CUI: C4693933
Disease: HYPEREKPLEXIA 4
HYPEREKPLEXIA 4 		0.700 0