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: rs1414279737
rs1414279737
HGD
1 1.000 0.080 3 120646327 missense variant T/C snv 4.0E-06 1.4E-05 0.700 1.000 13 1996 2015
dbSNP: rs1553717936
rs1553717936
HGD
1 1.000 0.080 3 120647891 missense variant C/G snv 0.700 1.000 13 1996 2015
dbSNP: rs368717991
rs368717991
HGD
1 1.000 0.080 3 120633257 missense variant C/G snv 1.2E-05 1.4E-05 0.700 1.000 13 1996 2015
dbSNP: rs373921680
rs373921680
HGD
1 1.000 0.080 3 120674952 missense variant T/G snv 4.4E-05 7.0E-05 0.700 1.000 13 1996 2015
dbSNP: rs374473331
rs374473331
HGD
1 1.000 0.080 3 120650840 missense variant C/G;T snv 4.0E-06 0.700 1.000 13 1996 2015
dbSNP: rs569846003
rs569846003
HGD
1 1.000 0.080 3 120650861 missense variant A/G snv 4.4E-05 0.700 1.000 13 1996 2015
dbSNP: rs752153829
rs752153829
HGD
1 1.000 0.080 3 120650849 missense variant C/A;T snv 3.6E-05; 4.0E-06 0.700 1.000 13 1996 2015
dbSNP: rs756522409
rs756522409
HGD
1 1.000 0.080 3 120641662 missense variant T/C snv 4.0E-06 0.700 1.000 13 1996 2015
dbSNP: rs759843592
rs759843592
HGD
1 1.000 0.080 3 120644320 missense variant T/G snv 0.700 1.000 13 1996 2015
dbSNP: rs764037565
rs764037565
HGD
1 1.000 0.080 3 120633259 missense variant G/A snv 1.2E-05 7.0E-06 0.700 1.000 13 1996 2015
dbSNP: rs765912447
rs765912447
HGD
1 1.000 0.080 3 120633229 missense variant G/T snv 4.0E-06 0.700 1.000 13 1996 2015
dbSNP: rs775274569
rs775274569
HGD
1 1.000 0.080 3 120647888 missense variant T/C snv 0.700 1.000 13 1996 2015
dbSNP: rs780173554
rs780173554
HGD
1 1.000 0.080 3 120647018 missense variant C/G snv 8.0E-06 7.0E-06 0.700 1.000 13 1996 2015
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