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: rs267607203
rs267607203
KRIT1
2 0.925 0.200 7 92222870 stop gained G/A;C snv 4.0E-06 0.740 1.000 6 1999 2014
dbSNP: rs267607204
rs267607204
KRIT1
2 0.925 0.200 7 92234451 stop gained G/T snv 0.710 1.000 1 2009 2009
dbSNP: rs1554514380
rs1554514380
KRIT1
1 1.000 0.200 7 92222977 splice acceptor variant TAC/- delins 0.700 1.000 5 2002 2014
dbSNP: rs1554527922
rs1554527922
KRIT1
1 1.000 0.200 7 92234924 splice acceptor variant C/G;T snv 0.700 1.000 5 1999 2014
dbSNP: rs1554527925
rs1554527925
KRIT1
1 1.000 0.200 7 92234925 splice acceptor variant T/C snv 0.700 1.000 5 1999 2013
dbSNP: rs1180476377
rs1180476377
KRIT1
1 1.000 0.200 7 92222870 frameshift variant GAGA/-;GA delins 7.0E-06 0.700 1.000 3 2013 2016
dbSNP: rs1563313372
rs1563313372
KRIT1
1 1.000 0.200 7 92237754 stop gained G/A snv 0.700 1.000 3 2002 2013
dbSNP: rs886039402
rs886039402
KRIT1
1 1.000 0.200 7 92222966 stop gained G/A snv 0.700 1.000 3 2002 2014
dbSNP: rs1057517753
rs1057517753
KRIT1
1 1.000 0.200 7 92225770 frameshift variant GTTT/- delins 0.700 1.000 2 2011 2017
dbSNP: rs1563266658
rs1563266658
KRIT1
1 1.000 0.200 7 92222923 frameshift variant TTCAA/- delins 0.700 1.000 2 2007 2013
dbSNP: rs1554503009
rs1554503009
KRIT1
1 1.000 0.200 7 92213330 stop gained C/T snv 0.700 1.000 1 2002 2002
dbSNP: rs1554504519
rs1554504519
KRIT1
1 1.000 0.200 7 92214646 frameshift variant CCATAGACTATTT/- delins 0.700 1.000 1 2014 2014
dbSNP: rs1554518386
rs1554518386
KRIT1
1 1.000 0.200 7 92226527 frameshift variant -/T delins 0.700 1.000 1 2017 2017
dbSNP: rs1554528541
rs1554528541
KRIT1
1 1.000 0.200 7 92235401 splice donor variant A/G snv 0.700 1.000 1 2017 2017
dbSNP: rs1563275562
rs1563275562
KRIT1
1 1.000 0.200 7 92225766 frameshift variant TGTTT/- delins 0.700 1.000 1 2001 2001
dbSNP: rs886039400
rs886039400
KRIT1
1 1.000 0.200 7 92241100 frameshift variant ACTT/- del 0.700 1.000 1 2001 2001
dbSNP: rs1057518665
rs1057518665
KRIT1
1 1.000 0.200 7 92241108 frameshift variant CT/- delins 8.0E-06 7.0E-06 0.700 0
dbSNP: rs1326827713
rs1326827713
KRIT1
1 1.000 0.200 7 92234458 frameshift variant -/AATG delins 0.700 0
dbSNP: rs1331502949
rs1331502949
KRIT1
1 1.000 0.200 7 92225773 stop gained G/A;C snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1554489785
rs1554489785
KRIT1
1 1.000 0.200 7 92200805 splice acceptor variant C/G;T snv 0.700 0
dbSNP: rs1554490317
rs1554490317
KRIT1
1 1.000 0.200 7 92201329 frameshift variant TC/- delins 0.700 0
dbSNP: rs1554504484
rs1554504484
KRIT1
1 1.000 0.200 7 92214638 frameshift variant TC/- delins 0.700 0
dbSNP: rs1554512658
rs1554512658
KRIT1
1 1.000 0.200 7 92221920 frameshift variant G/- delins 0.700 0
dbSNP: rs1554513061
rs1554513061
KRIT1
1 1.000 0.200 7 92222048 stop gained G/A snv 0.700 0
dbSNP: rs1554513070
rs1554513070
KRIT1
1 1.000 0.200 7 92222054 splice acceptor variant C/A snv 0.700 0