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: rs1021631442
rs1021631442
3 0.882 0.200 2 47806279 missense variant G/A snv 0.700 1.000 1 2012 2012
dbSNP: rs1057517764
rs1057517764
3 1.000 0.160 2 47805628 frameshift variant -/T delins 7.0E-06 0.700 1.000 1 2010 2010
dbSNP: rs1064793489
rs1064793489
2 1.000 0.160 2 47805027 splice donor variant G/- delins 0.700 0
dbSNP: rs1064793600
rs1064793600
1 1.000 0.160 2 47799597 inframe deletion CTT/- delins 7.0E-06 0.700 0
dbSNP: rs1114167720
rs1114167720
2 1.000 0.160 2 47806490 frameshift variant -/GAGACTA delins 0.700 0
dbSNP: rs1114167729
rs1114167729
2 1.000 0.160 2 47806652 splice donor variant G/C snv 0.700 0
dbSNP: rs1114167801
rs1114167801
2 1.000 0.160 2 47799109 frameshift variant AAAGA/- delins 0.700 1.000 1 2007 2007
dbSNP: rs1244531716
rs1244531716
1 1.000 0.160 2 47799422 missense variant T/A snv 4.0E-06 0.700 0
dbSNP: rs1251033858
rs1251033858
1 1.000 0.160 2 47799235 missense variant T/C;G snv 4.0E-06 0.700 0
dbSNP: rs1316409501
rs1316409501
2 1.000 0.160 2 47803663 missense variant G/A;T snv 4.0E-06 0.700 1.000 3 1998 2012
dbSNP: rs1333555322
rs1333555322
1 1.000 0.160 2 47799976 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs1416452389
rs1416452389
1 1.000 0.160 2 47806590 stop gained C/G;T snv 4.0E-06 0.700 0
dbSNP: rs146816935
rs146816935
3 1.000 0.160 2 47798875 stop gained C/G;T snv 4.0E-06; 8.0E-06 0.700 1.000 2 2016 2016
dbSNP: rs1553331290
rs1553331290
3 1.000 0.160 2 47803466 frameshift variant AT/- delins 0.700 0
dbSNP: rs1553331676
rs1553331676
2 1.000 0.160 2 47803626 splice donor variant GCCTATTGTGTGCTTGTTACTGGACCAAATATGGGGGGCAAGTCTACGCTTATGAGACAGGTAAC/- del 0.700 0
dbSNP: rs1553332166
rs1553332166
2 1.000 0.160 2 47804934 stop gained C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1553332671
rs1553332671
2 1.000 0.160 2 47805635 frameshift variant G/- del 0.700 0
dbSNP: rs1553332772
rs1553332772
1 1.000 0.160 2 47805708 splice donor variant G/T snv 0.700 0
dbSNP: rs1553332996
rs1553332996
1 1.000 0.160 2 47806234 stop gained -/AATAGCAAATGCAGTTGTTAAAGAACTTG delins 0.700 0
dbSNP: rs1553333421
rs1553333421
2 1.000 0.160 2 47806499 frameshift variant -/A;GGA delins 0.700 0
dbSNP: rs1553333584
rs1553333584
1 1.000 0.160 2 47806566 stop gained -/CTAATCTCCCAGAGGAAGTTAT delins 0.700 0
dbSNP: rs1553333594
rs1553333594
1 1.000 0.160 2 47806567 frameshift variant -/T delins 0.700 0
dbSNP: rs1553333598
rs1553333598
1 1.000 0.160 2 47806571 frameshift variant -/CTCCCAGAGGAAGTTATTC delins 0.700 0
dbSNP: rs1553333599
rs1553333599
2 1.000 0.160 2 47806571 frameshift variant -/CTCCCAGAGGAAGTTATTCAAAA delins 0.700 0
dbSNP: rs1553333635
rs1553333635
1 1.000 0.160 2 47806585 frameshift variant TATTCAAAAGGGACAT/- delins 0.700 0