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: rs1553970289
rs1553970289
INTU
1 1.000 0.080 4 127643770 frameshift variant T/- del 0.700 0
dbSNP: rs760184006
rs760184006
GLI3
1 1.000 0.080 7 41972396 missense variant T/C snv 4.0E-05 4.9E-05 0.010 1.000 1 2013 2013