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: rs570952151
rs570952151
ROGDI
1 1.000 0.160 16 4802381 splice donor variant C/G;T snv 7.0E-06 0.700 1.000 2 2012 2013
dbSNP: rs1060502981
rs1060502981
ROGDI
1 1.000 0.160 16 4801587 splice acceptor variant T/C snv 0.700 1.000 1 2012 2012
dbSNP: rs1039568775
rs1039568775
ROGDI
1 1.000 0.160 16 4797967 frameshift variant -/C delins 2.1E-05 0.700 0
dbSNP: rs1555491350
rs1555491350
ROGDI
1 1.000 0.160 16 4799778 stop gained G/A snv 0.700 0
dbSNP: rs387907145
rs387907145
ROGDI
36 0.695 0.440 16 4800548 stop gained G/A snv 0.700 0
dbSNP: rs387907146
rs387907146
ROGDI
1 1.000 0.160 16 4798631 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs749657986
rs749657986
ROGDI
1 1.000 0.160 16 4798564 splice region variant C/A;G;T snv 6.2E-06 0.700 0
dbSNP: rs764899074
rs764899074
ROGDI
1 1.000 0.160 16 4801292 frameshift variant AG/- delins 8.1E-06 0.700 0
dbSNP: rs786205119
rs786205119
ROGDI
1 1.000 0.160 16 4798186 splice acceptor variant T/A snv 7.0E-06 0.700 0
dbSNP: rs786205124
rs786205124
ROGDI
35 0.701 0.400 16 4798593 frameshift variant G/-;GGG delins 3.5E-05 0.700 0
dbSNP: rs786205125
rs786205125
ROGDI
1 1.000 0.160 16 4802483 non coding transcript exon variant CCCCGCCG/-;CCCCGCCGCCCCGCCG delins 1.4E-05 0.700 0