Source: ALL
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: rs121918262
rs121918262
REEP1
3 0.882 0.240 2 86282216 missense variant G/A;T snv 4.0E-06 0.800 1.000 7 2006 2015
dbSNP: rs1060503496
rs1060503496
REEP1
1 1.000 0.080 2 86282219 missense variant G/C snv 0.800 0
dbSNP: rs121918263
rs121918263
REEP1
2 1.000 0.080 2 86252037 stop gained G/A snv 0.700 1.000 2 2009 2018
dbSNP: rs1558875298
rs1558875298
REEP1
1 1.000 0.080 2 86232725 frameshift variant A/- del 0.700 1.000 2 2006 2008
dbSNP: rs1060503493
rs1060503493
REEP1
1 1.000 0.080 2 86263981 missense variant C/T snv 0.700 0
dbSNP: rs1060503494
rs1060503494
REEP1
1 1.000 0.080 2 86264034 stop gained C/T snv 0.700 0
dbSNP: rs1064792986
rs1064792986
REEP1
1 1.000 0.080 2 86232667 frameshift variant GTGTTTGCCGCTGGCC/- delins 0.700 0
dbSNP: rs377637314
rs377637314
REEP1
1 1.000 0.080 2 86217057 synonymous variant C/A;T snv 7.8E-04; 4.0E-06 0.700 0
dbSNP: rs387906263
rs387906263
REEP1
1 1.000 0.080 2 86232708 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs387906264
rs387906264
REEP1
1 1.000 0.080 2 86254816 splice acceptor variant T/C snv 0.700 0
dbSNP: rs587781248
rs587781248
REEP1
1 1.000 0.080 2 86217101 stop lost T/C snv 0.700 0
dbSNP: rs786204081
rs786204081
REEP1
1 1.000 0.080 2 86251959 stop gained T/A snv 0.700 0
dbSNP: rs869312880
rs869312880
REEP1
5 0.882 0.120 2 86232624 splice donor variant C/T snv 0.700 0