Gene: DNAI2 ×
Source: CLINVAR ×
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: rs752924362
rs752924362
DNAI2
2 1.000 0.160 17 74309345 stop gained G/A;C snv 1.6E-04; 4.0E-06 0.700 1.000 3 2013 2015
dbSNP: rs758109864
rs758109864
DNAI2
1 17 74289737 splice donor variant G/A snv 1.2E-05 2.1E-05 0.700 1.000 1 2008 2008
dbSNP: rs1060502202
rs1060502202
DNAI2
1 17 74301057 stop gained G/A snv 0.700 0
dbSNP: rs1240172375
rs1240172375
DNAI2
1 17 74310088 frameshift variant G/- delins 7.0E-06 0.700 0
dbSNP: rs137852998
rs137852998
DNAI2
1 17 74299780 stop gained C/G;T snv 1.6E-05; 1.2E-05 0.700 0
dbSNP: rs141581673
rs141581673
DNAI2 ; LOC105371891
1 17 74312024 stop gained C/A;T snv 4.5E-04; 1.6E-05 0.700 0
dbSNP: rs1555614910
rs1555614910
DNAI2
1 17 74310025 frameshift variant -/G delins 0.700 0
dbSNP: rs200708870
rs200708870
DNAI2
1 17 74301064 stop gained C/T snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs756868374
rs756868374
DNAI2
1 17 74310083 stop gained C/T snv 4.0E-05 7.0E-06 0.700 0
dbSNP: rs770946088
rs770946088
DNAI2
1 17 74289672 stop gained C/A snv 2.4E-05 0.700 0
dbSNP: rs780116486
rs780116486
DNAI2
1 17 74291127 stop gained C/T snv 8.0E-06 0.700 0
dbSNP: rs878855078
rs878855078
DNAI2
1 17 74310089 missense variant G/A;C snv 4.0E-06 0.700 0