LRP6, LDL receptor related protein 6, 4040

N. diseases: 134; N. variants: 23
Disease: Reduced number of teeth ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs866789963
rs866789963 		1.000 12 12150835 splice donor variant C/A;T snv
CUI: C4024202
Disease: Reduced number of teeth
Reduced number of teeth 		0.700 0
dbSNP: rs869320635
rs869320635 		12 12121375 frameshift variant G/- delins
CUI: C4024202
Disease: Reduced number of teeth
Reduced number of teeth 		0.700 0
dbSNP: rs869320636
rs869320636 		1.000 12 12138536 splice acceptor variant T/G snv
CUI: C4024202
Disease: Reduced number of teeth
Reduced number of teeth 		0.700 0
dbSNP: rs869320637
rs869320637 		12 12203333 missense variant G/C snv
CUI: C4024202
Disease: Reduced number of teeth
Reduced number of teeth 		0.700 0
dbSNP: rs869320638
rs869320638 		12 12179949 missense variant G/A snv 7.0E-06
CUI: C4024202
Disease: Reduced number of teeth
Reduced number of teeth 		0.700 0
dbSNP: rs869320639
rs869320639 		1.000 12 12165232 missense variant C/T snv
CUI: C4024202
Disease: Reduced number of teeth
Reduced number of teeth 		0.700 0
dbSNP: rs869320640
rs869320640 		12 12126923 splice acceptor variant T/C snv
CUI: C4024202
Disease: Reduced number of teeth
Reduced number of teeth 		0.700 0