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: rs80357167
rs80357167
2 1.000 17 43094066 stop gained C/A;T snv 0.700 1.000 1 2004 2004
dbSNP: rs80358146
rs80358146
2 1.000 17 43104957 splice acceptor variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs80359603
rs80359603
2 1.000 13 32340907 frameshift variant G/- delins 0.700 1.000 1 2016 2016
dbSNP: rs80359706
rs80359706
3 1.000 13 32363522 frameshift variant -/T delins 0.700 1.000 1 2016 2016
dbSNP: rs886037784
rs886037784
2 1.000 17 43099803 frameshift variant A/- del 0.700 1.000 1 2016 2016
dbSNP: rs886037785
rs886037785
2 1.000 17 43091708 frameshift variant TACCT/- delins 0.700 1.000 1 2016 2016
dbSNP: rs886037786
rs886037786
2 1.000 17 43094231 frameshift variant -/G delins 0.700 1.000 1 2016 2016
dbSNP: rs886037787
rs886037787
2 1.000 17 43092961 stop gained A/T snv 0.700 1.000 1 2016 2016
dbSNP: rs886037788
rs886037788
1 17 43091461 frameshift variant -/TCAA ins 0.700 1.000 1 2016 2016
dbSNP: rs886037789
rs886037789
1 17 43071159 frameshift variant T/- del 0.700 1.000 1 2016 2016
dbSNP: rs886037790
rs886037790
2 1.000 17 43071202 frameshift variant A/- delins 0.700 1.000 1 2016 2016
dbSNP: rs886037797
rs886037797
1 13 32332667 frameshift variant AACTAACC/- delins 0.700 1.000 1 2016 2016
dbSNP: rs886037798
rs886037798
2 1.000 13 32340886 frameshift variant -/C delins 0.700 1.000 1 2016 2016
dbSNP: rs886037799
rs886037799
2 1.000 13 32338503 frameshift variant AT/- del 0.700 1.000 1 2016 2016
dbSNP: rs886037800
rs886037800
2 1.000 13 32338395 frameshift variant TT/-;TTT delins 0.700 1.000 1 2016 2016
dbSNP: rs886037803
rs886037803
2 1.000 13 32338188 frameshift variant TA/- delins 0.700 1.000 1 2016 2016
dbSNP: rs886037804
rs886037804
2 1.000 13 32379805 frameshift variant A/- delins 0.700 1.000 1 2016 2016
dbSNP: rs886037805
rs886037805
2 1.000 13 32398266 frameshift variant G/- del 0.700 1.000 1 2016 2016
dbSNP: rs1057518635
rs1057518635
2 1.000 13 32340367 frameshift variant ATAG/- delins 0.700 0
dbSNP: rs1057518636
rs1057518636
3 1.000 17 43047646 frameshift variant -/A ins 0.700 0
dbSNP: rs1057518637
rs1057518637
3 1.000 13 32336621 stop gained C/G;T snv 0.700 0
dbSNP: rs1057518638
rs1057518638
2 1.000 13 32339317 stop gained T/A snv 0.700 0
dbSNP: rs1060505051
rs1060505051
2 1.000 17 43091883 frameshift variant AAGTT/- delins 0.700 0
dbSNP: rs1131692035
rs1131692035
2 1.000 13 32332335 stop gained C/G snv 0.700 0
dbSNP: rs1131692162
rs1131692162
1 17 43099781 stop gained C/A snv 0.700 0