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: 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
dbSNP: rs1174584850
rs1174584850
HGD
1 1.000 0.080 3 120670524 missense variant T/C snv 7.0E-06 0.700 0
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
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: 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: rs1553716979
rs1553716979
HGD
1 1.000 0.080 3 120641588 splice donor variant C/T snv 0.700 0
dbSNP: rs369517993
rs369517993
HGD
1 1.000 0.080 3 120674937 stop gained G/A;T snv 4.0E-06 0.700 0
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