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: rs208684
rs208684
SHH
1 1.000 0.120 7 155814463 upstream gene variant C/A snv 0.75 0.010 1.000 1 2010 2010
dbSNP: rs4848632
rs4848632
GLI2
1 1.000 0.120 2 120805019 intron variant A/G snv 0.51 0.010 1.000 1 2010 2010