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: rs1437477079
rs1437477079
MMUT
1 1.000 0.080 6 49459437 frameshift variant -/A delins 4.0E-06 0.700 1.000 2 2015 2016
dbSNP: rs1554160919
rs1554160919
MMUT
1 1.000 0.080 6 49459106 frameshift variant -/A delins 0.700 1.000 2 2005 2016
dbSNP: rs879253841
rs879253841
MMUT
1 1.000 0.080 6 49451616 frameshift variant -/A delins 0.700 1.000 1 2016 2016
dbSNP: rs780283588
rs780283588
MMUT
2 1.000 0.080 6 49457714 frameshift variant -/AA delins 1.2E-05; 4.0E-06 1.4E-05 0.700 1.000 1 2012 2012
dbSNP: rs1568307275
rs1568307275
MAN2B1
1 1.000 0.080 19 12663736 frameshift variant -/AA ins 0.700 0
dbSNP: rs758008398
rs758008398
MMUT
1 1.000 0.080 6 49457765 frameshift variant -/ATAAATTC delins 2.8E-05 0.700 1.000 2 2005 2012
dbSNP: rs879253823
rs879253823
MMUT
1 1.000 0.080 6 49459411 frameshift variant -/C delins 0.700 1.000 1 2016 2016
dbSNP: rs1554158970
rs1554158970
MMUT
1 1.000 0.080 6 49441900 splice acceptor variant -/CATTCGATCATTCGCTTTATGTTCACCAAATACCTTTTTCAGGGCATCTGTGATTTCTCCCACTGTACATC delins 0.700 1.000 1 2016 2016
dbSNP: rs879253850
rs879253850
MMUT
1 1.000 0.080 6 49431784 frameshift variant -/GCAG delins 2.4E-05; 8.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs747777227
rs747777227
MMUT
1 1.000 0.080 6 49457751 stop gained -/T delins 1.6E-05; 8.0E-06 1.4E-05 0.700 1.000 1 2016 2016
dbSNP: rs752898811
rs752898811
MMUT
2 1.000 0.080 6 49453645 frameshift variant -/T delins 8.0E-06; 1.6E-05 0.700 1.000 1 2006 2006
dbSNP: rs879253821
rs879253821
MMUT
1 1.000 0.080 6 49459436 frameshift variant -/T delins 0.700 1.000 1 2016 2016
dbSNP: rs1561952122
rs1561952122
MMUT
1 1.000 0.080 6 49440276 frameshift variant -/T delins 0.700 0
dbSNP: rs771021560
rs771021560
MMUT
1 1.000 0.080 6 49451649 frameshift variant -/T delins 4.0E-06 0.700 0
dbSNP: rs1064796328
rs1064796328
MMUT
1 1.000 0.080 6 49453661 frameshift variant A/- del 0.700 0
dbSNP: rs1554158775
rs1554158775
MMUT
1 1.000 0.080 6 49440312 missense variant A/C snv 0.700 1.000 20 1990 2017
dbSNP: rs1554158951
rs1554158951
MMUT
1 1.000 0.080 6 49441858 missense variant A/C snv 0.700 1.000 20 1990 2017
dbSNP: rs864309739
rs864309739
MMUT
1 1.000 0.080 6 49435526 missense variant A/C snv 7.0E-06 0.800 1.000 20 1990 2017
dbSNP: rs879253826
rs879253826
MMUT
1 1.000 0.080 6 49459137 stop gained A/C snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs200055428
rs200055428
MMUT
1 1.000 0.080 6 49440264 missense variant A/C snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1179778233
rs1179778233
MMUT
1 1.000 0.080 6 49456129 missense variant A/C;G snv 4.0E-06 0.700 0
dbSNP: rs121918249
rs121918249
MMUT
2 0.925 0.080 6 49459154 missense variant A/G snv 1.2E-05 7.0E-06 0.800 1.000 21 1990 2017
dbSNP: rs1554160246
rs1554160246
MMUT
1 1.000 0.080 6 49453754 missense variant A/G snv 0.800 1.000 21 1990 2017
dbSNP: rs775593146
rs775593146
MMUT
1 1.000 0.080 6 49441930 missense variant A/G snv 4.0E-06 0.800 1.000 21 1990 2017
dbSNP: rs864309733
rs864309733
MMUT
1 1.000 0.080 6 49457923 missense variant A/G snv 7.0E-06 0.800 1.000 20 1990 2017