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: rs886037942
rs886037942
SLC1A2
2 1.000 11 35315089 missense variant C/G;T snv 0.800 1.000 2 2016 2017
dbSNP: rs886037943
rs886037943
SLC1A2
1 1.000 11 35315079 missense variant A/G snv 0.800 1.000 2 2016 2017
dbSNP: rs781379291
rs781379291
SLC1A2
1 1.000 11 35292512 missense variant G/A;C snv 0.700 1.000 3 2012 2017