TMEM67, transmembrane protein 67, 91147

N. diseases: 215; N. variants: 87
Disease: Cerebellar vermis hypoplasia ×
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: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		0.700 1.000 1 2009 2009
dbSNP: rs1554555063
rs1554555063 		0.882 0.160 8 93791324 splice region variant G/A snv
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		0.700 0
dbSNP: rs1554558365
rs1554558365 		0.925 0.120 8 93804851 inframe insertion -/TATGAA delins
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		0.700 0
dbSNP: rs201893408
rs201893408 		0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		0.700 0
dbSNP: rs752362727
rs752362727 		0.716 0.480 8 93786255 missense variant C/T snv 2.0E-05
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		0.700 0
dbSNP: rs765468645
rs765468645 		0.882 0.160 8 93765413 stop gained C/T snv 8.0E-06 2.1E-05
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		0.700 0