Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs148677674
rs148677674
LZTR1
0.882 0.160 22 20994988 missense variant C/A;T snv 2.4E-05; 1.6E-04
CUI: C0221217
Disease: Neck webbing
Neck webbing 		0.700 0
dbSNP: rs148677674
rs148677674
LZTR1
0.882 0.160 22 20994988 missense variant C/A;T snv 2.4E-05; 1.6E-04
CUI: C4225280
Disease: NOONAN SYNDROME 10
NOONAN SYNDROME 10 		0.700 0
dbSNP: rs148677674
rs148677674
LZTR1
0.882 0.160 22 20994988 missense variant C/A;T snv 2.4E-05; 1.6E-04
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 0