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: 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: 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: rs864622212
rs864622212
PTCH1
1 1.000 0.160 9 95506542 frameshift variant AG/- delins 0.700 1.000 2 1997 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: 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: rs1564035949
rs1564035949
PTCH1 ; LOC100507346
1 1.000 0.160 9 95469896 frameshift variant A/- delins 0.700 1.000 1 2014 2014
dbSNP: rs1564050178
rs1564050178
PTCH1
1 1.000 0.160 9 95477631 frameshift variant AGCC/- delins 0.700 1.000 1 2006 2006
dbSNP: rs1564051237
rs1564051237
PTCH1
1 1.000 0.160 9 95478057 frameshift variant GAGT/- delins 0.700 1.000 1 2013 2013
dbSNP: rs1564055606
rs1564055606
PTCH1
1 1.000 0.160 9 95480462 stop gained G/C snv 0.700 1.000 1 2013 2013
dbSNP: rs1564055612
rs1564055612
PTCH1
1 1.000 0.160 9 95480462 frameshift variant G/- del 0.700 1.000 1 2013 2013
dbSNP: rs199476090
rs199476090
PTCH1
1 1.000 0.160 9 95479134 stop gained G/A snv 0.700 1.000 1 1996 1996
dbSNP: rs773304123
rs773304123
PTCH1 ; LOC100507346
1 1.000 0.160 9 95467363 synonymous variant C/T snv 1.2E-05 0.010 1.000 1 2008 2008
dbSNP: rs776154605
rs776154605
PTCH1
1 1.000 0.160 9 95476058 frameshift variant G/- delins 0.700 1.000 1 2006 2006
dbSNP: rs1057520590
rs1057520590
PTCH1
1 1.000 0.160 9 95482204 splice acceptor variant C/G snv 0.700 0
dbSNP: rs1060502264
rs1060502264
PTCH1
1 1.000 0.160 9 95449930 frameshift variant C/- del 0.700 0