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: rs67934205
rs67934205
1 1.000 0.040 17 28357365 frameshift variant C/-;CC delins 0.010 1.000 1 2006 2006
dbSNP: rs868988300
rs868988300
1 1.000 0.040 17 28357364 missense variant G/C snv 0.010 1.000 1 2006 2006