Gene: PTCH2 ×
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: 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: rs56126236
rs56126236
PTCH2
2 0.925 0.160 1 44829444 frameshift variant GA/- delins 6.3E-05 0.700 1.000 1 2013 2013