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: rs1564032829
rs1564032829
PTCH1 ; LOC100507346
2 0.925 0.160 9 95468757 frameshift variant T/- delins 0.700 0
dbSNP: rs540045689
rs540045689
PTCH1
1 1.000 0.040 9 95508351 missense variant G/C snv 7.2E-06 0.010 1.000 1 2019 2019
dbSNP: rs755103500
rs755103500
PTCH1
4 0.851 0.160 9 95516820 start lost T/C;G snv 8.4E-06; 4.2E-06 0.010 1.000 1 2009 2009
dbSNP: rs766905791
rs766905791
PTCH1
4 0.851 0.160 9 95485815 start lost T/C snv 1.2E-05 0.010 1.000 1 2009 2009