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: 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
dbSNP: rs1554513911
rs1554513911
KRIT1
1 1.000 0.200 7 92222833 stop gained G/T snv 0.700 0
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: rs1554527817
rs1554527817
KRIT1
1 1.000 0.200 7 92234871 stop gained G/C snv 0.700 0
dbSNP: rs1554539120
rs1554539120
KRIT1
1 1.000 0.200 7 92242135 start lost T/C snv 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: 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: 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