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: rs11749391
rs11749391
5 0.827 0.120 5 150849504 intron variant T/C snv 0.21 0.700 1.000 1 2016 2016
dbSNP: rs10065172
rs10065172
8 0.790 0.200 5 150848436 synonymous variant C/T snv 0.17 0.21 0.010 < 0.001 1 2017 2017