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: rs1210666598
rs1210666598
COL17A1
1 1.000 0.080 10 104034272 frameshift variant CAGGGGGTC/C;G delins 4.6E-06 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 0.040 1.000 4 1997 2005
dbSNP: rs1168634503
rs1168634503
LAMC2
1 1.000 0.080 1 183186431 missense variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs1181742615
rs1181742615
LAMA3
2 0.925 0.080 18 23915298 stop gained C/G;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs121912482
rs121912482
LAMB3
2 0.925 0.080 1 209633070 missense variant C/T snv 7.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs121912771
rs121912771
COL17A1
3 0.882 0.080 10 104034193 missense variant C/T snv 1.1E-04 1.5E-04 0.010 1.000 1 1997 1997
dbSNP: rs121912773
rs121912773
COL17A1
2 0.925 0.080 10 104053072 missense variant C/T snv 0.010 1.000 1 2000 2000
dbSNP: rs121912774
rs121912774
COL17A1
2 0.925 0.080 10 104072062 stop gained G/A snv 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs998162536
rs998162536
LAMA3
1 1.000 0.080 18 23928631 stop gained C/G;T snv 4.0E-06 0.010 1.000 1 2011 2011