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: rs1200941109
rs1200941109
4 0.882 0.040 2 15940679 frameshift variant C/-;CC delins 0.010 1.000 1 2013 2013
dbSNP: rs757066045
rs757066045
4 0.882 0.040 9 21974725 missense variant C/T snv 8.2E-06 0.010 1.000 1 2013 2013