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: rs11123170
rs11123170
1 2 113221363 intron variant C/G snv 0.35 0.800 1.000 2 2012 2019
dbSNP: rs7576384
rs7576384
1 2 113235808 non coding transcript exon variant C/A;G snv 0.700 1.000 1 2018 2018