Gene: PTCH1 ×
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: 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
dbSNP: rs1060502271
rs1060502271
PTCH1
1 1.000 0.160 9 95479149 splice acceptor variant T/A snv 0.700 0
dbSNP: rs1060502273
rs1060502273
PTCH1
2 1.000 0.160 9 95453562 frameshift variant AT/- del 0.700 0
dbSNP: rs1060502274
rs1060502274
PTCH1 ; LOC100507346
1 1.000 0.160 9 95469119 stop gained G/A snv 0.700 0
dbSNP: rs1060502278
rs1060502278
PTCH1
1 1.000 0.160 9 95458207 stop gained C/A snv 0.700 0
dbSNP: rs1060502280
rs1060502280
PTCH1
1 1.000 0.160 9 95485814 frameshift variant TA/- delins 0.700 0
dbSNP: rs1060502281
rs1060502281
PTCH1
2 1.000 0.160 9 95481954 stop gained G/T snv 0.700 0
dbSNP: rs1060502285
rs1060502285
PTCH1
1 1.000 0.160 9 95456414 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1060502286
rs1060502286
PTCH1
1 1.000 0.160 9 95479006 frameshift variant AT/- delins 0.700 0
dbSNP: rs1060502287
rs1060502287
PTCH1
1 1.000 0.160 9 95481987 stop gained C/T snv 0.700 0
dbSNP: rs1060502294
rs1060502294
PTCH1 ; LOC100507346
1 1.000 0.160 9 95467333 frameshift variant -/A delins 0.700 0
dbSNP: rs1060502295
rs1060502295
PTCH1
1 1.000 0.160 9 95478094 frameshift variant G/- del 0.700 0
dbSNP: rs1060502297
rs1060502297
PTCH1
1 1.000 0.160 9 95479060 frameshift variant G/- del 0.700 0
dbSNP: rs1060502298
rs1060502298
PTCH1
1 1.000 0.160 9 95458178 stop gained A/T snv 0.700 0
dbSNP: rs1060502301
rs1060502301
PTCH1
2 1.000 0.160 9 95458029 stop gained C/T snv 0.700 0
dbSNP: rs1064793922
rs1064793922
PTCH1
1 1.000 0.160 9 95482198 stop gained C/A;T snv 0.700 0
dbSNP: rs1131690969
rs1131690969
PTCH1
2 1.000 0.160 9 95480525 frameshift variant CTTT/- delins 0.700 0
dbSNP: rs1333346461
rs1333346461
PTCH1
1 1.000 0.160 9 95485690 stop gained G/A;T snv 7.0E-06 0.700 0
dbSNP: rs1344258746
rs1344258746
PTCH1
1 1.000 0.160 9 95485821 stop gained C/A;T snv 0.700 0
dbSNP: rs1356231878
rs1356231878
PTCH1
1 1.000 0.160 9 95459685 stop gained A/C;G snv 4.0E-06 0.700 0
dbSNP: rs1432645175
rs1432645175
PTCH1
1 1.000 0.160 9 95479006 stop gained A/C;G snv 0.700 0
dbSNP: rs1554689667
rs1554689667
PTCH1
1 1.000 0.160 9 95449847 frameshift variant ATAT/GGA delins 0.700 0
dbSNP: rs1554690411
rs1554690411
PTCH1
1 1.000 0.160 9 95453498 frameshift variant GA/- delins 0.700 0
dbSNP: rs1554691354
rs1554691354
PTCH1
1 1.000 0.160 9 95458055 frameshift variant -/A delins 0.700 0