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: rs104894048
rs104894048
SHH
2 0.925 0.120 7 155803019 missense variant G/C;T snv 3.7E-05 0.800 1.000 12 1996 2009