TMEM67, transmembrane protein 67, 91147

N. diseases: 215; N. variants: 87
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: rs267607116
rs267607116
0.851 0.160 8 93808861 missense variant G/A;C snv
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
Nervous System Diseases 0.700 1.000 1 2009 2009
dbSNP: rs1554555063
rs1554555063
0.882 0.160 8 93791324 splice region variant G/A snv
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
Nervous System Diseases 0.700 0