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: rs11988795
rs11988795
1 8 72037366 intron variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs200192163
rs200192163
1 8 72036453 missense variant C/A;G snv 1.6E-05 0.010 1.000 1 2014 2014