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: rs1554698037
rs1554698037
ELP1
1.000 0.080 9 108906476 frameshift variant AA/- delins
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial 		0.700 0