Source: CLINVAR ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs28941770
rs28941770
HEXA
2 0.925 0.120 15 72353105 missense variant C/A;G;T snv 4.8E-05 0.820 1.000 6 1988 2016