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: rs1326827713
rs1326827713
KRIT1
1 1.000 0.200 7 92234458 frameshift variant -/AATG delins 0.700 0
dbSNP: rs1554518386
rs1554518386
KRIT1
1 1.000 0.200 7 92226527 frameshift variant -/T delins 0.700 1.000 1 2017 2017
dbSNP: rs854560
rs854560
PON1
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 1.000 1 2015 2015
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: rs886039400
rs886039400
KRIT1
1 1.000 0.200 7 92241100 frameshift variant ACTT/- del 0.700 1.000 1 2001 2001
dbSNP: rs1563301954
rs1563301954
KRIT1
1 1.000 0.200 7 92234542 frameshift variant C/- delins 0.700 0
dbSNP: rs1554513070
rs1554513070
KRIT1
1 1.000 0.200 7 92222054 splice acceptor variant C/A snv 0.700 0
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: rs1554489785
rs1554489785
KRIT1
1 1.000 0.200 7 92200805 splice acceptor variant C/G;T snv 0.700 0
dbSNP: rs1554503009
rs1554503009
KRIT1
1 1.000 0.200 7 92213330 stop gained C/T snv 0.700 1.000 1 2002 2002
dbSNP: rs1554518783
rs1554518783
KRIT1
1 1.000 0.200 7 92226682 stop gained C/T snv 0.700 0
dbSNP: rs1554527779
rs1554527779
KRIT1
1 1.000 0.200 7 92234841 stop gained C/T snv 0.700 0
dbSNP: rs1554504519
rs1554504519
KRIT1
1 1.000 0.200 7 92214646 frameshift variant CCATAGACTATTT/- delins 0.700 1.000 1 2014 2014
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: rs1554512658
rs1554512658
KRIT1
1 1.000 0.200 7 92221920 frameshift variant G/- delins 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
dbSNP: rs1554513061
rs1554513061
KRIT1
1 1.000 0.200 7 92222048 stop gained G/A snv 0.700 0
dbSNP: rs771656368
rs771656368
KRIT1
3 0.925 0.200 7 92241059 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs886043300
rs886043300
KRIT1
1 1.000 0.200 7 92235417 stop gained G/A 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: rs137853140
rs137853140
KRIT1
2 0.925 0.200 7 92235531 missense variant G/C snv 0.010 1.000 1 2013 2013