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: rs1064793760
rs1064793760
COL17A1
1 1.000 0.080 10 104034179 frameshift variant T/- del 0.700 0
dbSNP: rs1181742615
rs1181742615
LAMA3
2 0.925 0.080 18 23915298 stop gained C/G;T snv 4.0E-06; 8.0E-06 0.700 0
dbSNP: rs118203901
rs118203901
LAMC2
2 0.925 0.080 1 183222181 stop gained C/T snv 2.1E-05 0.700 0
dbSNP: rs1186161867
rs1186161867
LAMB3
3 0.882 0.080 1 209628034 splice donor variant C/A;T snv 1.4E-05 0.700 0
dbSNP: rs121912769
rs121912769
COL17A1
2 0.925 0.080 10 104034711 stop gained G/A snv 2.1E-05 1.4E-05 0.700 0
dbSNP: rs121912770
rs121912770
COL17A1
1 1.000 0.080 10 104038409 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs121912772
rs121912772
COL17A1
1 1.000 0.080 10 104041526 stop gained A/C snv 0.700 0
dbSNP: rs121912774
rs121912774
COL17A1
2 0.925 0.080 10 104072062 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs137852758
rs137852758
LAMA3
1 1.000 0.080 18 23939322 stop gained C/T snv 0.700 0
dbSNP: rs1553281335
rs1553281335
LAMB3
1 1.000 0.080 1 209650070 frameshift variant -/A delins 0.700 0
dbSNP: rs1558088792
rs1558088792
LAMC2
1 1.000 0.080 1 183218389 splice acceptor variant G/A snv 0.700 0
dbSNP: rs587776813
rs587776813
LAMB3
1 1.000 0.080 1 209633136 splice region variant A/G snv 0.700 0
dbSNP: rs587776814
rs587776814
LAMB3
1 1.000 0.080 1 209632777 splice acceptor variant C/T snv 0.700 0
dbSNP: rs760094345
rs760094345
COL17A1
1 1.000 0.080 10 104076418 stop gained G/A;C snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs772038362
rs772038362
LAMA3
3 0.882 0.200 18 23939301 stop gained C/T snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs774174881
rs774174881
LAMB3
3 0.882 0.080 1 209629852 stop gained A/C snv 4.0E-06 0.700 0
dbSNP: rs786205094
rs786205094
LAMB3
1 1.000 0.080 1 209630654 frameshift variant A/- del 0.700 0
dbSNP: rs786205095
rs786205095
LAMB3
1 1.000 0.080 1 209627425 frameshift variant ACACG/- del 0.700 0
dbSNP: rs797045084
rs797045084
COL17A1
1 1.000 0.080 10 104043576 splice acceptor variant CCCTCTGAAAAC/- delins 0.700 0
dbSNP: rs80356680
rs80356680
LAMB3
3 0.882 0.080 1 209650023 stop gained G/A snv 5.6E-05 6.3E-05 0.700 0
dbSNP: rs80356682
rs80356682
LAMB3
7 0.790 0.120 1 209625721 stop gained G/A snv 5.1E-04 4.8E-04 0.700 0
dbSNP: rs121912466
rs121912466
ITGB4
1 1.000 0.080 17 75742591 missense variant G/A snv 0.800 1.000 1 2000 2000
dbSNP: rs121912771
rs121912771
COL17A1
3 0.882 0.080 10 104034193 missense variant C/T snv 1.1E-04 1.5E-04 0.700 1.000 5 1996 2002
dbSNP: rs121912773
rs121912773
COL17A1
2 0.925 0.080 10 104053072 missense variant C/T snv 0.800 1.000 5 1996 2002
dbSNP: rs762236241
rs762236241
GALK1 ; ITGB4
3 0.882 0.080 17 75757312 splice donor variant T/C snv 2.0E-05 0.700 1.000 2 1999 2002