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: rs1558668156
rs1558668156
1 2 47801092 frameshift variant TTCT/- del 0.700 0
dbSNP: rs1558392228
rs1558392228
1 2 47806286 frameshift variant TTCAACTCACTACCATTCATTAGTAGAAGATTATT/- delins 0.700 0
dbSNP: rs876660630
rs876660630
2 2 47800628 stop gained TTAAGTCTA/- del 0.700 0
dbSNP: rs1060502875
rs1060502875
1 2 47791106 frameshift variant TT/-;TTT delins 0.700 0
dbSNP: rs587782638
rs587782638
2 2 47799882 frameshift variant TT/-;TTT delins 0.700 0
dbSNP: rs267608092
rs267608092
4 0.925 0.160 2 47803553 frameshift variant TT/-;T;TTT delins 0.700 1.000 4 2002 2016
dbSNP: rs267608042
rs267608042
3 1.000 0.160 2 47801101 frameshift variant TT/- delins 0.700 1.000 2 2007 2015
dbSNP: rs587783056
rs587783056
4 0.925 0.160 2 47799685 frameshift variant TT/- delins 1.4E-05 0.700 1.000 1 2015 2015
dbSNP: rs1553412960
rs1553412960
1 2 47799552 frameshift variant TT/- del 0.700 0
dbSNP: rs786204252
rs786204252
2 2 47799090 frameshift variant TT/- delins 0.700 0
dbSNP: rs1553333497
rs1553333497
1 2 47806526 frameshift variant TGTCCTAAAAGCT/- delins 0.700 1.000 5 2005 2013
dbSNP: rs267608082
rs267608082
2 1.000 0.160 2 47799884 frameshift variant TG/- del 0.700 1.000 2 2003 2004
dbSNP: rs1553414131
rs1553414131
1 2 47800755 frameshift variant TG/- del 0.700 0
dbSNP: rs1553333449
rs1553333449
1 2 47806503 frameshift variant TCCTCTAT/- delins 0.700 0
dbSNP: rs267608058
rs267608058
6 0.851 0.200 2 47800130 frameshift variant TCAG/- delins 7.0E-06 0.700 1.000 6 1999 2013
dbSNP: rs1553333168
rs1553333168
2 2 47806353 splice donor variant TATGGTATGTGCA/- delins 0.700 0
dbSNP: rs1324100572
rs1324100572
1 2 47804983 frameshift variant TAGAGTGTTTA/- delins 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1064794075
rs1064794075
2 2 47783495 splice donor variant TA/AG mnv 0.700 1.000 2 2008 2014
dbSNP: rs63749821
rs63749821
3 1.000 0.160 2 47803443 stop gained TA/-;TATA delins 0.700 0
dbSNP: rs63750194
rs63750194
3 1.000 0.160 2 47804983 frameshift variant TA/- delins 0.700 1.000 4 2004 2015
dbSNP: rs1060502886
rs1060502886
2 2 47799798 frameshift variant TA/- del 0.700 1.000 1 2015 2015
dbSNP: rs1064794384
rs1064794384
2 2 47806271 frameshift variant TA/- delins 0.700 0
dbSNP: rs63751058
rs63751058
3 1.000 0.160 2 47806325 stop gained T/G snv 0.700 1.000 3 2006 2015
dbSNP: rs750528093
rs750528093
3 1.000 0.160 2 47799278 missense variant T/C;G snv 4.0E-06 0.700 0
dbSNP: rs587779204
rs587779204
3 1.000 0.160 2 47799092 missense variant T/C snv 0.700 1.000 3 2013 2017