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: rs1057518950
rs1057518950
TPO
0.851 0.280 2 1484815 missense variant C/T snv
CUI: C0241442
Disease: Protrusion of tongue
Protrusion of tongue 		0.700 0
dbSNP: rs200661329
rs200661329
PIGQ
0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05
CUI: C0241442
Disease: Protrusion of tongue
Protrusion of tongue 		0.700 0
dbSNP: rs869312694
rs869312694
MAGEL2
0.925 0.120 15 23644535 stop gained C/A snv
CUI: C0241442
Disease: Protrusion of tongue
Protrusion of tongue 		0.700 0
dbSNP: rs879255531
rs879255531
EHMT1
0.882 0.400 9 137728379 stop gained C/T snv
CUI: C0241442
Disease: Protrusion of tongue
Protrusion of tongue 		0.700 0