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: rs1553361141
rs1553361141
1 1.000 0.160 2 47445546 splice donor variant AAAACACCAGAAATTATTGTTGGCAGTTTTTGTGACTCCTCTTACTGATCTTCGTTCTGACTTCTCCAAGTTTCAGGAAATGATAGAAACAACTTTAGATATGGATCAGG/- delins 0.700 1.000 8 2003 2013
dbSNP: rs63750521
rs63750521
1 1.000 0.160 2 47445644 stop gained T/C;G snv 0.700 1.000 8 1994 2005
dbSNP: rs1553642657
rs1553642657
1 1.000 0.160 3 37008811 splice donor variant GGAGGACCTTTTTTACAACATAGCCACGAGGAGAAAAGCTTTAAAAAATCCAAGTGAAGAATATGGGAAAATTTTGGAAGTTGTTGGCAGGT/- delins 0.700 1.000 4 2003 2010
dbSNP: rs267607875
rs267607875
1 1.000 0.160 3 37048539 missense variant C/T snv 0.700 1.000 4 2005 2011
dbSNP: rs63750611
rs63750611
1 1.000 0.160 2 47429854 stop gained C/G;T snv 4.4E-05 0.700 1.000 4 1996 2008
dbSNP: rs63750337
rs63750337
1 1.000 0.160 2 47403352 frameshift variant C/- delins 0.700 1.000 2 2004 2012
dbSNP: rs63750906
rs63750906
1 1.000 0.160 3 37004440 frameshift variant A/- del 0.700 1.000 2 2005 2009
dbSNP: rs63751482
rs63751482
1 1.000 0.160 2 47403325 frameshift variant CACGGCGAGGACGCGCTGCTGGCCGCCCG/- delins 0.700 1.000 2 2005 2009
dbSNP: rs786204321
rs786204321
1 1.000 0.160 2 47475249 stop gained C/T snv 0.700 1.000 2 2003 2011
dbSNP: rs1057520735
rs1057520735
1 1.000 0.160 2 47476388 stop gained C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs1553356518
rs1553356518
1 1.000 0.160 2 47429740 splice donor variant ATTGAATTTAGTGGAAGCTTTTGTAGAAGATGCAGAATTGAGGCAGACTTTACAAGAAGATTTACTTCGTCGATTCCCAGATCTTAACCGACTTGCCAAGAAGTTTCAAAGACAAGCAGCAAACTTACAAGATTGTTACCGACTCTATCAGGGTATAAATCAACTACCTAATGTTATACAGGCTCTGGAAAAACATGAAG/-;ATTGAATTTAGTGGAAGCTTTTGTAGAAGATGCAGAATTGAGGCAGACTTTACAAGAAGATTTACTTCGTCGATTCCCAGATCTTAACCGACTTGCCAAGAAGTTTCAAAGACAAGCAGCAAACTTACAAGATTGTTACCGACTCTATCAGGGTATAAATCAACTACCTAATGTTATACAGGCTCTGGAAAAACATGAAGATTGAATTTAGTGGAAGCTTTTGTAGAAGATGCAGAATTGAGGCAGACTTTACAAGAAGATTTACTTCGTCGATTCCCAGATCTTAACCGACTTGCCAAGAAGTTTCAAAGACAAGCAGCAAACTTACAAGATTGTTACCGACTCTATCAGGGTATAAATCAACTACCTAATGTTATACAGGCTCTGGAAAAACATGAAG delins 0.700 1.000 1 2005 2005
dbSNP: rs1553369194
rs1553369194
1 1.000 0.160 2 47476540 inframe deletion GAAATGTTGGAAACTGCT/- delins 0.700 1.000 1 2010 2010
dbSNP: rs1554306353
rs1554306353
1 1.000 0.160 7 6005921 missense variant T/G snv 0.700 1.000 1 2014 2014
dbSNP: rs267607964
rs267607964
1 1.000 0.160 2 47466657 splice acceptor variant G/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs376258383
rs376258383
1 1.000 0.160 7 5999131 missense variant C/T snv 3.6E-05 4.9E-05 0.010 1.000 1 2002 2002
dbSNP: rs41295282
rs41295282
1 1.000 0.160 3 37001024 missense variant A/G snv 1.6E-05 7.0E-05 0.010 1.000 1 2002 2002
dbSNP: rs587779243
rs587779243
1 1.000 0.160 2 47800549 frameshift variant GATT/- delins 0.700 1.000 1 2010 2010
dbSNP: rs587779318
rs587779318
1 1.000 0.160 2 47798677 stop gained C/T snv 0.700 1.000 1 2012 2012
dbSNP: rs587779344
rs587779344
1 1.000 0.160 7 5997349 frameshift variant GG/C;G delins 0.700 1.000 1 2013 2013
dbSNP: rs63749846
rs63749846
1 1.000 0.160 2 47480703 stop gained T/A snv 0.700 1.000 1 1995 1995
dbSNP: rs63750280
rs63750280
1 1.000 0.160 2 47475129 missense variant C/A;G snv 0.010 1.000 1 2006 2006
dbSNP: rs753075410
rs753075410
1 1.000 0.160 2 47416420 missense variant T/A;C;G snv 4.0E-06 0.700 1.000 1 2013 2013
dbSNP: rs786203075
rs786203075
1 1.000 0.160 7 5986831 missense variant T/C snv 0.010 1.000 1 2006 2006
dbSNP: rs1060500702
rs1060500702
1 1.000 0.160 3 37007050 missense variant G/A;C snv 0.700 0
dbSNP: rs1064793600
rs1064793600
1 1.000 0.160 2 47799597 inframe deletion CTT/- delins 7.0E-06 0.700 0