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: rs532757890
rs532757890
ECEL1
1 1.000 2 232484198 missense variant G/A snv 1.2E-05 0.800 1.000 4 2013 2014
dbSNP: rs587776919
rs587776919
ECEL1
1 1.000 2 232484156 missense variant G/A;T snv 8.0E-06 0.800 1.000 4 2013 2014
dbSNP: rs587777129
rs587777129
ECEL1
2 1.000 2 232480203 missense variant A/G snv 7.0E-06 0.800 1.000 4 2013 2014
dbSNP: rs149459910
rs149459910
ECEL1
1 1.000 2 232483452 stop gained C/T snv 3.6E-05 1.1E-04 0.700 1.000 1 2013 2013
dbSNP: rs587776917
rs587776917
ECEL1
13 0.776 0.200 2 232485937 stop gained -/T delins 0.700 1.000 1 2013 2013
dbSNP: rs765430577
rs765430577
ECEL1
1 1.000 2 232484472 missense variant C/A;T snv 0.700 1.000 1 2013 2013
dbSNP: rs1229171141
rs1229171141
ECEL1
1 1.000 2 232481159 splice region variant G/A;C snv 0.700 0
dbSNP: rs1341894581
rs1341894581
ECEL1
3 0.925 2 232486499 frameshift variant ACCGGGCCCCGGTGGCGCTGCGCGCAGCGCCCAACGGGAAGCCCGG/- delins 3.3E-04 1.1E-04 0.700 0
dbSNP: rs1356994386
rs1356994386
ECEL1
1 1.000 2 232486653 start lost T/A;C snv 0.700 0
dbSNP: rs1553566820
rs1553566820
ECEL1
1 1.000 2 232481857 splice region variant C/T snv 0.700 0
dbSNP: rs1553567411
rs1553567411
ECEL1
1 1.000 2 232484199 missense variant C/A snv 0.700 0
dbSNP: rs1553567937
rs1553567937
ECEL1
1 1.000 2 232486145 frameshift variant C/- delins 0.700 0
dbSNP: rs370167241
rs370167241
ECEL1
1 1.000 2 232484863 stop gained G/A snv 2.8E-05 1.5E-04 0.700 0
dbSNP: rs587776918
rs587776918
ECEL1
1 1.000 2 232486299 inframe deletion TCCAGGTTGGCG/- delins 0.700 0
dbSNP: rs587776920
rs587776920
ECEL1
1 1.000 2 232484469 splice region variant T/A snv 0.700 0
dbSNP: rs587776921
rs587776921
ECEL1
1 1.000 2 232486064 missense variant C/T snv 2.1E-05 0.700 0
dbSNP: rs587777130
rs587777130
ECEL1
1 1.000 2 232482887 stop gained G/C snv 0.700 0
dbSNP: rs587777131
rs587777131
ECEL1
1 1.000 2 232482850 splice donor variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs606231471
rs606231471
ECEL1
3 0.925 0.080 2 232481123 missense variant C/A;T snv 1.1E-05; 1.1E-05 0.700 0
dbSNP: rs762979130
rs762979130
ECEL1
1 1.000 2 232480716 splice donor variant A/G;T snv 4.0E-06 0.700 0