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: rs746540053
rs746540053
2 1.000 0.040 1 207911034 missense variant C/T snv 0.010 1.000 1 2011 2011