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: rs144610116
rs144610116
2 0.925 0.040 4 38941227 intron variant T/C snv 8.6E-03 0.700 1.000 1 2017 2017