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: rs587776689
rs587776689
PTCH1
3 0.882 0.160 9 95453587 missense variant T/A;G snv 0.700 1.000 2 1996 1998
dbSNP: rs1554044823
rs1554044823
CCNH ; RASA1
3 0.882 0.120 5 87331464 stop gained C/G snv 0.700 0
dbSNP: rs863223718
rs863223718
CCNH ; RASA1
2 0.925 5 87376512 stop gained C/T snv 0.700 0