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: rs41283526
rs41283526
2 0.925 0.040 10 60145969 splice region variant T/C snv 7.6E-03 8.2E-03 0.020 1.000 2 2016 2018