TMEM94, transmembrane protein 94, 9772

N. diseases: 103; N. variants: 2
Disease: Expressive language delay ×
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: rs1163944538
rs1163944538 		0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		0.700 0
dbSNP: rs1352010373
rs1352010373 		0.641 0.560 17 75489265 splice acceptor variant G/C snv
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		0.700 0