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: rs11299600
rs11299600 		0.925 0.080 8 128192327 regulatory region variant A/- delins 0.29
CUI: C4049006
Disease: Selective immunoglobulin A deficiency
Selective immunoglobulin A deficiency 		0.700 1.000 1 2016 2016
dbSNP: rs11299600
rs11299600 		0.925 0.080 8 128192327 regulatory region variant A/- delins 0.29
CUI: C0162538
Disease: Immunoglobulin A deficiency (disorder)
Immunoglobulin A deficiency (disorder) 		0.700 1.000 1 2016 2016