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: rs1135402917
rs1135402917
1 1.000 1 207331243 missense variant G/C snv 0.800 0
dbSNP: rs1114167430
rs1114167430
1 1.000 1 207321807 frameshift variant C/- delins 0.700 1.000 1 2017 2017
dbSNP: rs1135402915
rs1135402915
1 1.000 1 207322390 frameshift variant G/- delins 0.700 0
dbSNP: rs1135402916
rs1135402916
1 1.000 1 207322430 frameshift variant AA/CCTT delins 0.700 0
dbSNP: rs1135402918
rs1135402918
1 1.000 1 207324558 splice acceptor variant G/A snv 0.700 0
dbSNP: rs312262690
rs312262690
28 0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05 0.700 0