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: rs746776892
rs746776892
1 1.000 0.160 10 97599194 frameshift variant C/- delins 4.0E-06 4.2E-05 0.700 0
dbSNP: rs764396564
rs764396564
1 1.000 0.160 10 97584837 missense variant C/G;T snv 2.0E-05; 1.3E-04 0.700 0
dbSNP: rs770050262
rs770050262
1 1.000 0.160 10 97601990 splice region variant G/A;T snv 1.1E-04; 6.6E-05 0.700 0
dbSNP: rs776817346
rs776817346
1 1.000 0.160 10 97601855 splice acceptor variant A/G snv 4.0E-06 0.700 0
dbSNP: rs777683624
rs777683624
1 1.000 0.160 10 97599158 frameshift variant C/- delins 4.0E-06 7.0E-06 0.700 0
dbSNP: rs796052091
rs796052091
1 1.000 0.160 10 97584861 frameshift variant A/- del 0.700 0
dbSNP: rs924232072
rs924232072
1 1.000 0.160 10 97584709 frameshift variant -/TGGTC delins 4.0E-06 0.700 0
dbSNP: rs990830655
rs990830655
1 1.000 0.160 10 97600165 splice donor variant T/A;G snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs138207257
rs138207257
2 0.925 0.160 10 97611535 missense variant G/A;T snv 2.0E-05; 1.1E-04 0.800 1.000 5 2010 2012
dbSNP: rs202047589
rs202047589
2 0.925 0.160 10 97599780 missense variant C/T snv 4.4E-05 7.0E-05 0.700 1.000 1 2011 2011
dbSNP: rs746419489
rs746419489
2 0.925 0.160 10 97584820 stop gained C/A;T snv 8.0E-06 0.700 1.000 1 2012 2012
dbSNP: rs758304537
rs758304537
2 0.925 0.160 10 97584911 stop gained C/T snv 4.0E-05 2.1E-05 0.700 1.000 1 2012 2012