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: rs138558042
rs138558042
HGD
1 1.000 0.080 3 120633217 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs1390061303
rs1390061303
HGD
1 1.000 0.080 3 120670520 missense variant C/A snv 4.0E-06 0.700 0
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: 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: rs1458752246
rs1458752246
HGD
1 1.000 0.080 3 120675842 start lost C/T snv 4.0E-06 7.0E-06 0.700 0
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: rs1553716979
rs1553716979
HGD
1 1.000 0.080 3 120641588 splice donor variant C/T snv 0.700 0
dbSNP: rs1553717936
rs1553717936
HGD
1 1.000 0.080 3 120647891 missense variant C/G snv 0.700 1.000 13 1996 2015
dbSNP: rs1553721650
rs1553721650
HGD
1 1.000 0.080 3 120675487 splice acceptor variant TGCTCACATCCATGGTGTTCAAGGGGAATATGAGGGATTCTCTTTAACTCTGGATTTTTGGGGATCCTACTGGAAACCCTACAGTTAATTTCACTAGTTTGGATTGGCTGCTGTGCCACCAATCCAATTTTAATCTTTGTGTTGTCATTGCTCTGTATCTTCATTGCCCCTATGACTTGGGAAACCTCTAGACAGTTCACAGGCTAGATTGGAAGAGCCACGGTGGGTGGAGGCACTTTGGCCTGAAAGCTAGTCATCCAGGAATAGGATTCAGAGCTCTTCTAAGCACTTTATTTGCTCATACCTGTCCTTCTGGCAGGGAACCTGGGCAGCGAGGATCCTCTGAAGAACACTCATTCCCAAATCCAGAAATGTACTGTAGGTGACAAAGACACAAATGCCACCATTAGCAGGATTTAAAGAGCATTTCAGAAAATTGGCAGTTTACTAAGGTAAGAATTTCTATATGGACCTATGTTTGTGTATGATGTTCCACATATAATATCTTTACTGTGTCTTGACATATGAATCATTTAGGGAAGACAATATGGTTTCTGTGAATTTTAAAGACTTCTAATTAATCAGAAGAGTGCTGGATATTGCATAGACTTCTCCACCCTTAGCTGTACTTAGCTGATTTGTGGGTCTA/- delins 0.700 1.000 1 2014 2014
dbSNP: rs200808744
rs200808744
HGD
1 1.000 0.080 3 120674919 missense variant C/T snv 4.0E-05 5.6E-05 0.800 1.000 14 1996 2016
dbSNP: rs28941783
rs28941783
HGD
1 1.000 0.080 3 120647041 missense variant C/T snv 8.8E-05 1.6E-04 0.800 1.000 18 1996 2016
dbSNP: rs28942100
rs28942100
HGD
1 1.000 0.080 3 120644405 missense variant G/A snv 4.0E-05 2.8E-05 0.800 1.000 14 1996 2015
dbSNP: rs34214309
rs34214309
HGD
1 1.000 0.080 3 120638491 frameshift variant C/-;CC delins 0.700 1.000 1 2016 2016
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: rs369517993
rs369517993
HGD
1 1.000 0.080 3 120674937 stop gained G/A;T snv 4.0E-06 0.700 0
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: rs375283568
rs375283568
HGD
1 1.000 0.080 3 120647020 missense variant C/T snv 1.6E-05 4.2E-05 0.700 0
dbSNP: rs397515346
rs397515346
HGD
1 1.000 0.080 3 120647888 frameshift variant -/C delins 2.8E-05 2.8E-05 0.700 0
dbSNP: rs397515347
rs397515347
HGD
1 1.000 0.080 3 120675864 splice acceptor variant C/T snv 2.0E-05 4.2E-05 0.700 0
dbSNP: rs397515516
rs397515516
HGD
1 1.000 0.080 3 120633223 frameshift variant -/G delins 7.0E-06 0.700 0
dbSNP: rs397515517
rs397515517
HGD
1 1.000 0.080 3 120674902 frameshift variant T/- delins 0.700 0
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: rs544956641
rs544956641
HGD
1 1.000 0.080 3 120650843 missense variant G/A snv 5.6E-05 0.800 1.000 15 1996 2015
dbSNP: rs552207335
rs552207335
HGD
1 1.000 0.080 3 120682096 splice donor variant C/T snv 0.700 0