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: rs1563266658
rs1563266658
KRIT1
1 1.000 0.200 7 92222923 frameshift variant TTCAA/- delins 0.700 1.000 2 2007 2013
dbSNP: rs1563275562
rs1563275562
KRIT1
1 1.000 0.200 7 92225766 frameshift variant TGTTT/- delins 0.700 1.000 1 2001 2001
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: rs1554514380
rs1554514380
KRIT1
1 1.000 0.200 7 92222977 splice acceptor variant TAC/- delins 0.700 1.000 5 2002 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: rs11714980
rs11714980
SERPINI1 ; PDCD10
1 1.000 0.200 3 167735203 upstream gene variant T/C snv 0.27 0.010 1.000 1 2016 2016
dbSNP: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 1.000 1 2015 2015
dbSNP: rs1554539120
rs1554539120
KRIT1
1 1.000 0.200 7 92242135 start lost T/C snv 0.700 0
dbSNP: rs4746
rs4746
GLO1
21 0.708 0.400 6 38682852 missense variant T/A;G snv 0.36 0.010 1.000 1 2015 2015
dbSNP: rs9853967
rs9853967
SERPINI1 ; PDCD10
1 1.000 0.200 3 167735251 5 prime UTR variant T/A;C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs1563266147
rs1563266147
KRIT1
1 1.000 0.200 7 92222860 frameshift variant T/- del 0.700 0
dbSNP: rs1057517753
rs1057517753
KRIT1
1 1.000 0.200 7 92225770 frameshift variant GTTT/- delins 0.700 1.000 2 2011 2017
dbSNP: rs1563263905
rs1563263905
KRIT1
1 1.000 0.200 7 92222027 frameshift variant GT/- del 0.700 0
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: rs267607204
rs267607204
KRIT1
2 0.925 0.200 7 92234451 stop gained G/T snv 0.710 1.000 1 2009 2009
dbSNP: rs1554513911
rs1554513911
KRIT1
1 1.000 0.200 7 92222833 stop gained G/T snv 0.700 0
dbSNP: rs137853140
rs137853140
KRIT1
2 0.925 0.200 7 92235531 missense variant G/C snv 0.010 1.000 1 2013 2013
dbSNP: rs1554527817
rs1554527817
KRIT1
1 1.000 0.200 7 92234871 stop gained G/C snv 0.700 0
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: 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: 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: rs1057517786
rs1057517786
PDCD10
3 0.925 0.400 3 167704889 stop gained G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs11552377
rs11552377
CCM2
1 1.000 0.200 7 45064532 missense variant G/A snv 0.15 0.13 0.010 1.000 1 2012 2012