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: 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: rs886043300
rs886043300
KRIT1
1 1.000 0.200 7 92235417 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: 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: 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: rs1057518665
rs1057518665
KRIT1
1 1.000 0.200 7 92241108 frameshift variant CT/- delins 8.0E-06 7.0E-06 0.700 0
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: 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: 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: 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