Source: CLINVAR

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: rs1057519463
rs1057519463
HEXA
0.882 0.240 15 72349160 frameshift variant GAACTCAT/- delins
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 1.000 1 2014 2014