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: rs754185453
rs754185453
1 1.000 0.040 1 43361189 missense variant C/T snv 8.0E-06 0.010 1.000 1 2017 2017