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: rs878853787
rs878853787
MLH1
1 3 37050630 stop gained -/A delins 0.700 1.000 9 1996 2016
dbSNP: rs587782326
rs587782326
MSH6 ; FBXO11
2 2 47806628 frameshift variant -/A delins 0.700 1.000 6 2003 2015
dbSNP: rs587778989
rs587778989
MLH1
2 1.000 0.160 3 37050599 frameshift variant -/A delins 0.700 1.000 3 2003 2010
dbSNP: rs886044911
rs886044911
MSH6 ; FBXO11
2 1.000 0.160 2 47806614 frameshift variant -/A delins 0.700 1.000 3 2003 2014
dbSNP: rs267608118
rs267608118
MSH6 ; FBXO11
3 1.000 0.160 2 47806453 frameshift variant -/A delins 0.700 1.000 2 2010 2016
dbSNP: rs267608156
rs267608156
PMS2
3 1.000 0.160 7 5989867 frameshift variant -/A delins 0.700 1.000 2 2008 2013
dbSNP: rs267607977
rs267607977
MSH2
2 1.000 0.160 2 47475036 frameshift variant -/A ins 0.700 1.000 1 2002 2002
dbSNP: rs587780670
rs587780670
MSH6 ; FBXO11
3 1.000 0.160 2 47799772 frameshift variant -/A delins 0.700 1.000 1 2015 2015
dbSNP: rs587781554
rs587781554
MLH1
3 1.000 0.160 3 37020395 frameshift variant -/A delins 0.700 1.000 1 2015 2015
dbSNP: rs63751259
rs63751259
MLH1
2 1.000 0.160 3 37020362 frameshift variant -/A delins 0.700 1.000 1 2001 2001
dbSNP: rs1060500707
rs1060500707
MLH1
1 3 37025644 stop gained -/A delins 0.700 0
dbSNP: rs1553333310
rs1553333310
MSH6 ; FBXO11
1 2 47806462 frameshift variant -/A delins 0.700 0
dbSNP: rs1553333321
rs1553333321
MSH6 ; FBXO11
1 2 47806464 frameshift variant -/A delins 0.700 0
dbSNP: rs1553333530
rs1553333530
MSH6 ; FBXO11
1 2 47806542 stop gained -/A delins 0.700 0
dbSNP: rs1553370366
rs1553370366
MSH2
1 2 47480759 frameshift variant -/A delins 0.700 0
dbSNP: rs1553370435
rs1553370435
MSH2
1 2 47480824 stop gained -/A delins 0.700 0
dbSNP: rs1553412966
rs1553412966
MSH6 ; FBXO11
2 1.000 0.160 2 47799553 stop gained -/A delins 0.700 0
dbSNP: rs1553413074
rs1553413074
MSH6 ; FBXO11
1 2 47799680 frameshift variant -/A delins 0.700 0
dbSNP: rs1553413640
rs1553413640
MSH6 ; FBXO11
1 2 47800242 frameshift variant -/A delins 0.700 0
dbSNP: rs1558387361
rs1558387361
MSH6 ; FBXO11
1 2 47803520 frameshift variant -/A delins 0.700 0
dbSNP: rs1558461615
rs1558461615
MSH2
1 2 47412420 frameshift variant -/A delins 0.700 0
dbSNP: rs1562635799
rs1562635799
PMS2
1 7 5987525 frameshift variant -/A ins 0.700 0
dbSNP: rs267608149
rs267608149
PMS2
2 1.000 0.160 7 5997326 frameshift variant -/A delins 0.700 0
dbSNP: rs587782111
rs587782111
MSH6 ; FBXO11
3 1.000 0.160 2 47804946 stop gained -/A delins 0.700 0
dbSNP: rs63750149
rs63750149
MSH2
3 1.000 0.160 2 47478395 frameshift variant -/A delins 0.700 0