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: rs149682171
rs149682171
POMT1
3 0.882 0.120 9 131522113 missense variant C/T snv 6.0E-05 2.8E-05 0.710 1.000 1 2014 2014