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: rs375340325
rs375340325
HDX
1.000 0.120 X 84344426 missense variant C/A;T snv 9.6E-06
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.010 1.000 1 2012 2012
dbSNP: rs772453491
rs772453491
HDX
1.000 0.080 X 84469537 missense variant C/G;T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 1.000 1 2017 2017