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: rs1064793768
rs1064793768
MMUT
1 1.000 0.080 6 49459155 frameshift variant G/- delins 0.700 0
dbSNP: rs1064796328
rs1064796328
MMUT
1 1.000 0.080 6 49453661 frameshift variant A/- del 0.700 0
dbSNP: rs115923556
rs115923556
MMUT
1 1.000 0.080 6 49459262 missense variant T/C snv 2.0E-03 2.4E-03 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: rs1192889987
rs1192889987
MMUT
1 1.000 0.080 6 49459080 splice donor variant A/G;T snv 7.0E-06 0.700 0
dbSNP: rs121918241
rs121918241
MMACHC
2 0.925 0.160 1 45508329 stop gained C/A;T snv 4.0E-06; 9.6E-05 0.700 0
dbSNP: rs121918243
rs121918243
MMACHC
5 0.882 0.160 1 45508848 missense variant G/A snv 1.7E-04 7.7E-05 0.700 0
dbSNP: rs1227030642
rs1227030642
MMUT
1 1.000 0.080 6 49451601 frameshift variant CA/- delins 4.0E-06 0.700 0
dbSNP: rs1360470463
rs1360470463
MMUT
1 1.000 0.080 6 49435574 missense variant A/T snv 7.0E-06 0.700 0
dbSNP: rs147094927
rs147094927
MMUT
1 1.000 0.080 6 49435547 missense variant T/C snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs1476515561
rs1476515561
MMUT
1 1.000 0.080 6 49451684 frameshift variant TGCAGTACGGACAATATTATTGT/- delins 7.0E-06 0.700 0
dbSNP: rs147715336
rs147715336
MMUT
1 1.000 0.080 6 49435554 missense variant C/T snv 8.4E-05 1.0E-04 0.700 0
dbSNP: rs1554158372
rs1554158372
MMUT
1 1.000 0.080 6 49435590 frameshift variant C/- del 0.700 0
dbSNP: rs1554159942
rs1554159942
MMUT
1 1.000 0.080 6 49451656 missense variant C/A snv 0.700 0
dbSNP: rs1554160198
rs1554160198
MMUT
1 1.000 0.080 6 49453584 splice donor variant C/T snv 0.700 0
dbSNP: rs1561952122
rs1561952122
MMUT
1 1.000 0.080 6 49440276 frameshift variant -/T delins 0.700 0
dbSNP: rs1568307275
rs1568307275
MAN2B1
1 1.000 0.080 19 12663736 frameshift variant -/AA ins 0.700 0
dbSNP: rs190834116
rs190834116
MMUT
1 1.000 0.080 6 49459183 missense variant G/A;C snv 2.8E-05 0.700 0
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: rs727504022
rs727504022
MMUT
1 1.000 0.080 6 49459187 missense variant C/T snv 3.6E-05 0.700 0
dbSNP: rs750619189
rs750619189
MMUT
1 1.000 0.080 6 49440204 splice donor variant A/G snv 8.4E-05 7.0E-06 0.700 0
dbSNP: rs767593892
rs767593892
MMUT
1 1.000 0.080 6 49456185 missense variant G/A snv 0.700 0
dbSNP: rs770810987
rs770810987
MMUT
1 1.000 0.080 6 49457761 missense variant C/A;T snv 4.0E-06; 1.2E-05 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: rs776176938
rs776176938
MMUT
1 1.000 0.080 6 49431850 stop gained C/A;T snv 4.0E-06 0.700 0