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: 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: rs1554539120
rs1554539120
KRIT1
1 1.000 0.200 7 92242135 start lost T/C snv 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: 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: rs1554489785
rs1554489785
KRIT1
1 1.000 0.200 7 92200805 splice acceptor variant C/G;T snv 0.700 0
dbSNP: rs1554513070
rs1554513070
KRIT1
1 1.000 0.200 7 92222054 splice acceptor variant C/A snv 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: 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: 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: 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: 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: rs1563263905
rs1563263905
KRIT1
1 1.000 0.200 7 92222027 frameshift variant GT/- del 0.700 0
dbSNP: rs1563266147
rs1563266147
KRIT1
1 1.000 0.200 7 92222860 frameshift variant T/- del 0.700 0
dbSNP: rs1563301954
rs1563301954
KRIT1
1 1.000 0.200 7 92234542 frameshift variant C/- delins 0.700 0
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: 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: 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