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: rs767000507
rs767000507
ISCU
1 1.000 0.120 12 108567650 splice region variant G/C snv 2.2E-05 7.0E-06 0.700 1.000 4 2008 2010
dbSNP: rs267607190
rs267607190
ISCU
3 1.000 0.120 12 108564313 missense variant G/A;C snv 1.2E-05; 4.0E-06 0.700 1.000 1 2009 2009