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: rs202128953
rs202128953
HTATIP2
1 1.000 0.040 11 20364346 stop gained G/A;T snv 7.2E-05 0.010 1.000 1 2010 2010