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: rs142226072
rs142226072
1 1.000 0.040 16 89637551 splice region variant C/T snv 2.2E-04 3.6E-04 0.700 1.000 1 2018 2018