Source: ALL
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: rs397515518
rs397515518
HGD
1 1.000 0.080 3 120652591 splice donor variant C/A;T snv 1.6E-05 0.700 1.000 4 1998 2011
dbSNP: rs149165166
rs149165166
HGD
1 1.000 0.080 3 120650848 missense variant A/C;G snv 2.0E-04 0.700 1.000 3 2002 2009
dbSNP: rs786204422
rs786204422
HGD
1 1.000 0.080 3 120682101 stop gained A/T snv 4.0E-06 1.4E-05 0.700 1.000 3 2002 2009
dbSNP: rs786204662
rs786204662
HGD
1 1.000 0.080 3 120644441 splice acceptor variant C/- delins 7.0E-06 0.700 1.000 3 2000 2013
dbSNP: rs1057516362
rs1057516362
HGD
1 1.000 0.080 3 120675847 frameshift variant CC/AAT delins 0.700 1.000 2 1998 2016
dbSNP: rs760206323
rs760206323
HGD
1 1.000 0.080 3 120633146 splice donor variant C/A;T snv 1.6E-05; 4.0E-06 0.700 1.000 2 2009 2015
dbSNP: rs1057516467
rs1057516467
HGD
1 1.000 0.080 3 120670530 stop gained C/T snv 0.700 1.000 1 2012 2012
dbSNP: rs1057516976
rs1057516976
HGD
1 1.000 0.080 3 120650831 frameshift variant TT/- delins 0.700 1.000 1 2009 2009
dbSNP: rs1057517081
rs1057517081
HGD
1 1.000 0.080 3 120633316 frameshift variant CTC/TA delins 0.700 1.000 1 2009 2009
dbSNP: rs143370662
rs143370662
HGD
1 1.000 0.080 3 120628382 stop lost A/G snv 3.2E-05 2.1E-05 0.700 1.000 1 2009 2009
dbSNP: rs1553721650
rs1553721650
HGD
1 1.000 0.080 3 120675487 splice acceptor variant TGCTCACATCCATGGTGTTCAAGGGGAATATGAGGGATTCTCTTTAACTCTGGATTTTTGGGGATCCTACTGGAAACCCTACAGTTAATTTCACTAGTTTGGATTGGCTGCTGTGCCACCAATCCAATTTTAATCTTTGTGTTGTCATTGCTCTGTATCTTCATTGCCCCTATGACTTGGGAAACCTCTAGACAGTTCACAGGCTAGATTGGAAGAGCCACGGTGGGTGGAGGCACTTTGGCCTGAAAGCTAGTCATCCAGGAATAGGATTCAGAGCTCTTCTAAGCACTTTATTTGCTCATACCTGTCCTTCTGGCAGGGAACCTGGGCAGCGAGGATCCTCTGAAGAACACTCATTCCCAAATCCAGAAATGTACTGTAGGTGACAAAGACACAAATGCCACCATTAGCAGGATTTAAAGAGCATTTCAGAAAATTGGCAGTTTACTAAGGTAAGAATTTCTATATGGACCTATGTTTGTGTATGATGTTCCACATATAATATCTTTACTGTGTCTTGACATATGAATCATTTAGGGAAGACAATATGGTTTCTGTGAATTTTAAAGACTTCTAATTAATCAGAAGAGTGCTGGATATTGCATAGACTTCTCCACCCTTAGCTGTACTTAGCTGATTTGTGGGTCTA/- delins 0.700 1.000 1 2014 2014
dbSNP: rs34214309
rs34214309
HGD
1 1.000 0.080 3 120638491 frameshift variant C/-;CC delins 0.700 1.000 1 2016 2016
dbSNP: rs1049246177
rs1049246177
HGD
1 1.000 0.080 3 120674947 missense variant G/A snv 1.4E-05 0.700 0
dbSNP: rs1057516307
rs1057516307
HGD
1 1.000 0.080 3 120646265 splice donor variant A/G snv 0.700 0
dbSNP: rs1057516352
rs1057516352
HGD
1 1.000 0.080 3 120650818 frameshift variant C/- delins 0.700 0
dbSNP: rs1057516355
rs1057516355
HGD
1 1.000 0.080 3 120682109 start lost C/G snv 0.700 0
dbSNP: rs1057516662
rs1057516662
HGD
1 1.000 0.080 3 120652590 splice region variant CTCACA/- delins 0.700 0
dbSNP: rs1057516847
rs1057516847
HGD
1 1.000 0.080 3 120633270 frameshift variant -/C delins 0.700 0
dbSNP: rs1057516849
rs1057516849
HGD
1 1.000 0.080 3 120675821 frameshift variant G/- del 0.700 0
dbSNP: rs1057516911
rs1057516911
HGD
1 1.000 0.080 3 120650862 frameshift variant G/- delins 0.700 0
dbSNP: rs1057516921
rs1057516921
HGD
1 1.000 0.080 3 120650799 frameshift variant G/- delins 0.700 0
dbSNP: rs1057517089
rs1057517089
HGD
1 1.000 0.080 3 120638505 frameshift variant G/- delins 0.700 0
dbSNP: rs1057517370
rs1057517370
HGD
1 1.000 0.080 3 120670533 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1057517418
rs1057517418
HGD
1 1.000 0.080 3 120641686 frameshift variant -/A delins 0.700 0
dbSNP: rs1160502581
rs1160502581
HGD
1 1.000 0.080 3 120641640 missense variant C/G;T snv 4.0E-06 0.700 0