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: rs267606858
rs267606858
GYG1
1 1.000 3 148996406 missense variant C/A;G;T snv 8.0E-06; 1.2E-05 0.800 1.000 2 2010 2011
dbSNP: rs143137713
rs143137713
GYG1
3 0.925 3 148996462 missense variant G/C snv 1.0E-03 1.1E-03 0.700 1.000 2 2014 2017
dbSNP: rs1559834349
rs1559834349
GYG1
2 0.925 3 148996312 stop gained G/T snv 0.700 0