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: rs28933973
rs28933973
2 1.000 0.040 10 70599048 missense variant G/A snv 1.2E-05 0.800 1.000 11 1999 2017
dbSNP: rs104894181
rs104894181
1 1.000 0.040 10 70598435 missense variant C/T snv 4.0E-06 0.800 1.000 2 1999 2001
dbSNP: rs104894182
rs104894182
1 1.000 0.040 10 70598885 missense variant C/T snv 2.0E-05 0.800 1.000 2 1999 2001
dbSNP: rs104894183
rs104894183
1 1.000 0.040 10 70599173 missense variant A/C snv 0.800 1.000 2 1999 2001
dbSNP: rs28933374
rs28933374
1 1.000 0.040 10 70598687 missense variant G/A;T snv 4.0E-06 0.800 1.000 2 1999 2001
dbSNP: rs189650890
rs189650890
2 0.925 0.040 10 70598372 missense variant G/A snv 2.8E-05 0.700 1.000 11 2005 2016
dbSNP: rs147035858
rs147035858
1 1.000 0.040 10 70600853 frameshift variant A/- del 2.4E-04 9.8E-04 0.700 1.000 6 1999 2013
dbSNP: rs147462227
rs147462227
2 1.000 0.040 10 70600458 missense variant C/T snv 1.4E-04 7.0E-05 0.700 1.000 5 1989 2011
dbSNP: rs138126912
rs138126912
1 1.000 0.040 10 70598411 missense variant G/A snv 7.3E-04 7.3E-04 0.700 1.000 4 2011 2017
dbSNP: rs28933375
rs28933375
4 0.882 0.160 10 70598966 missense variant T/C snv 5.0E-03 7.5E-03 0.700 1.000 2 1999 2001
dbSNP: rs776299562
rs776299562
1 1.000 0.040 10 70600755 missense variant C/G;T snv 4.8E-05 0.700 1.000 2 1999 2001
dbSNP: rs886042160
rs886042160
2 0.925 0.160 5 38511872 frameshift variant -/A delins 0.700 1.000 1 2004 2004
dbSNP: rs104894176
rs104894176
1 1.000 0.040 10 70598599 stop gained C/T snv 1.6E-05 2.8E-05 0.700 0
dbSNP: rs104894180
rs104894180
1 1.000 0.040 10 70600713 stop gained G/A;C snv 4.0E-06 0.700 0
dbSNP: rs1060499556
rs1060499556
1 1.000 0.040 10 70598601 missense variant A/C;G snv 4.1E-06 0.700 0
dbSNP: rs1554867753
rs1554867753
1 1.000 0.040 10 70598546 frameshift variant G/- delins 0.700 0
dbSNP: rs1564723653
rs1564723653
1 1.000 0.040 10 70598336 stop gained G/T snv 0.700 0
dbSNP: rs193302876
rs193302876
1 1.000 0.040 10 70598475 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs28933376
rs28933376
1 1.000 0.040 10 70598417 missense variant G/A snv 2.8E-05 1.4E-05 0.700 0
dbSNP: rs751161742
rs751161742
1 1.000 0.040 10 70598384 missense variant T/G snv 1.6E-05 0.700 0
dbSNP: rs751247865
rs751247865
1 1.000 0.040 10 70599055 missense variant G/T snv 3.6E-05 5.6E-05 0.700 0
dbSNP: rs752858869
rs752858869
1 1.000 0.040 10 70598640 missense variant T/A snv 8.1E-06 7.0E-06 0.700 0
dbSNP: rs768849283
rs768849283
7 0.882 0.040 10 70600517 missense variant C/G snv 6.8E-05 0.700 0
dbSNP: rs771552960
rs771552960
1 1.000 0.040 10 70598630 frameshift variant AG/- del 1.2E-05 0.700 0
dbSNP: rs786205093
rs786205093
1 1.000 0.040 10 70600696 frameshift variant G/- delins 7.0E-06 0.700 0