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: rs1374141592
rs1374141592
1 1.000 0.040 5 180630561 missense variant C/T snv 7.0E-06 0.010 1.000 1 2016 2016