Gene: HGSNAT ×
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: rs112029032
rs112029032
HGSNAT
4 0.882 0.160 8 43199504 missense variant G/A snv 4.1E-03 3.6E-03 0.710 1.000 0 2015 2015