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: 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: rs1057516362
rs1057516362
HGD
1 1.000 0.080 3 120675847 frameshift variant CC/AAT delins 0.700 1.000 2 1998 2016
dbSNP: rs1057516467
rs1057516467
HGD
1 1.000 0.080 3 120670530 stop gained C/T snv 0.700 1.000 1 2012 2012
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: 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: 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
dbSNP: rs1174584850
rs1174584850
HGD
1 1.000 0.080 3 120670524 missense variant T/C snv 7.0E-06 0.700 0
dbSNP: rs120074170
rs120074170
HGD
1 1.000 0.080 3 120638562 missense variant A/C;G snv 0.800 1.000 15 1996 2015
dbSNP: rs120074171
rs120074171
HGD
1 1.000 0.080 3 120638471 missense variant C/A;G;T snv 2.4E-05 0.800 1.000 13 1996 2015
dbSNP: rs120074172
rs120074172
HGD
1 1.000 0.080 3 120633223 missense variant T/C snv 3.6E-05; 4.0E-06 1.2E-04 0.810 1.000 13 1996 2015
dbSNP: rs120074173
rs120074173
HGD
1 1.000 0.080 3 120633233 missense variant T/C snv 1.7E-04 3.0E-04 0.810 1.000 15 1996 2015
dbSNP: rs120074174
rs120074174
HGD
1 1.000 0.080 3 120641660 missense variant C/A;T snv 5.6E-05 0.810 1.000 15 1996 2015
dbSNP: rs1324654414
rs1324654414
HGD
1 1.000 0.080 3 120670527 missense variant A/G snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1349543050
rs1349543050
HGD
1 1.000 0.080 3 120646974 missense variant T/C snv 4.0E-06 0.700 0