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: rs878853856
rs878853856
PTCH1
1 1.000 0.160 9 95453533 missense variant A/G snv 0.800 1.000 8 1996 2015
dbSNP: rs121434397
rs121434397
PTCH2
1 1.000 0.160 1 44827617 missense variant C/T snv 2.8E-05 7.0E-06 0.800 1.000 5 2004 2015
dbSNP: rs587776689
rs587776689
PTCH1
3 0.882 0.160 9 95453587 missense variant T/A;G snv 0.700 1.000 5 1996 2004
dbSNP: rs1060502268
rs1060502268
PTCH1
1 1.000 0.160 9 95476835 missense variant C/T snv 0.700 1.000 4 2003 2013
dbSNP: rs1554698582
rs1554698582
PTCH1
1 1.000 0.160 9 95477618 inframe deletion ACCAGCAGGACGCCA/- delins 0.700 1.000 4 1996 2006
dbSNP: rs1060502292
rs1060502292
PTCH1 ; LOC100507346
2 1.000 0.160 9 95468803 frameshift variant AG/- delins 0.700 1.000 3 1997 2006
dbSNP: rs1064793921
rs1064793921
PTCH1
2 1.000 0.160 9 95476161 splice acceptor variant T/C;G snv 0.700 1.000 3 2006 2014
dbSNP: rs1131690986
rs1131690986
PTCH1
2 1.000 0.160 9 95485866 stop gained G/A snv 0.700 1.000 3 1997 2006
dbSNP: rs587776578
rs587776578
SUFU
3 0.882 0.160 10 102599545 splice donor variant G/A;C snv 0.700 1.000 3 2011 2014
dbSNP: rs863224443
rs863224443
PTCH1
1 1.000 0.160 9 95449942 splice acceptor variant T/C snv 0.700 1.000 3 2005 2006
dbSNP: rs1060502277
rs1060502277
PTCH1
1 1.000 0.160 9 95476758 splice donor variant C/A;T snv 0.700 1.000 2 2006 2006
dbSNP: rs1554695039
rs1554695039
PTCH1 ; LOC100507346
1 1.000 0.160 9 95468939 stop gained G/A snv 0.700 1.000 2 1997 2012
dbSNP: rs1554698613
rs1554698613
PTCH1
1 1.000 0.160 9 95477680 splice acceptor variant TTAGACAGGCATAGGCGAGCTGCAAGCAGAACAATGG/- delins 0.700 1.000 2 2006 2006
dbSNP: rs1554700574
rs1554700574
PTCH1
1 1.000 0.160 9 95481948 splice donor variant CAGGAGG/- del 0.700 1.000 2 2006 2006
dbSNP: rs1554708760
rs1554708760
PTCH1
1 1.000 0.160 9 95506541 frameshift variant AA/- del 0.700 1.000 2 1997 2006
dbSNP: rs1554841447
rs1554841447
SUFU
2 0.925 0.160 10 102509168 splice acceptor variant G/A snv 0.700 1.000 2 2012 2014
dbSNP: rs1564676479
rs1564676479
SUFU
2 0.925 0.160 10 102550107 splice donor variant G/A snv 0.700 1.000 2 2012 2014
dbSNP: rs864622212
rs864622212
PTCH1
1 1.000 0.160 9 95506542 frameshift variant AG/- delins 0.700 1.000 2 1997 2006
dbSNP: rs878853849
rs878853849
PTCH1
2 1.000 0.160 9 95506601 splice acceptor variant T/C;G snv 0.700 1.000 2 2006 2006
dbSNP: rs878853852
rs878853852
PTCH1 ; LOC100507346
1 1.000 0.160 9 95462000 splice acceptor variant T/A;C snv 0.700 1.000 2 2006 2006
dbSNP: rs1131690987
rs1131690987
PTCH1
2 1.000 0.160 9 95480449 frameshift variant A/- del 0.700 1.000 1 1998 1998
dbSNP: rs1554697928
rs1554697928
PTCH1
1 1.000 0.160 9 95476110 frameshift variant -/T delins 0.700 1.000 1 1997 1997
dbSNP: rs1554708753
rs1554708753
PTCH1
1 1.000 0.160 9 95506522 frameshift variant G/- del 0.700 1.000 1 2001 2001
dbSNP: rs1554708771
rs1554708771
PTCH1
1 1.000 0.160 9 95506546 frameshift variant CT/- delins 0.700 1.000 1 2005 2005
dbSNP: rs1554852279
rs1554852279
SUFU
2 0.925 0.160 10 102592711 frameshift variant -/TA delins 0.700 1.000 1 2012 2012