Source: ALL
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: rs1173716957
rs1173716957
HHAT
3 1.000 0.120 1 210464508 missense variant G/T snv 1.4E-05 0.010 1.000 1 2014 2014