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: rs104894052
rs104894052
SHH
2 0.925 0.160 7 155803294 missense variant A/G snv 0.800 1.000 2 2001 2004
dbSNP: rs104894053
rs104894053
SHH
2 0.925 0.160 7 155806475 stop gained C/T snv 0.700 0
dbSNP: rs104894049
rs104894049
SHH
3 0.925 0.120 7 155806527 missense variant T/A snv 0.810 1.000 3 2001 2006