Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2051484
rs2051484
AAMDC ; INTS4
11 77884034 intron variant C/T snv 9.5E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs2186564
rs2186564
AAMDC ; RSF1
0.925 0.280 11 77872220 missense variant G/A snv 0.14 0.13
CUI: C0268446
Disease: Thyrotoxic periodic paralysis
Thyrotoxic periodic paralysis 		0.700 1.000 1 2019 2019
dbSNP: rs2186564
rs2186564
AAMDC ; RSF1
0.925 0.280 11 77872220 missense variant G/A snv 0.14 0.13
CUI: C0018213
Disease: Graves Disease
Graves Disease 		0.700 1.000 1 2019 2019