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: rs587778792
rs587778792
SHH
2 0.925 0.120 7 155811823 missense variant C/G snv 0.700 1.000 12 1996 2009