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: rs1428916820
rs1428916820
SHH
1 1.000 0.120 7 155812007 missense variant A/G snv 0.700 1.000 12 1996 2009