TMEM67, transmembrane protein 67, 91147

N. diseases: 215; N. variants: 87
Disease: JOUBERT SYNDROME 6 ×
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: C1853153
Disease: JOUBERT SYNDROME 6
JOUBERT SYNDROME 6 		Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases 0.700 1.000 1 2009 2009
dbSNP: rs386834192
rs386834192 		0.925 0.320 8 93803685 splice donor variant -/T delins 1.4E-05
CUI: C1853153
Disease: JOUBERT SYNDROME 6
JOUBERT SYNDROME 6 		Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs749435317
rs749435317 		0.882 0.280 8 93786287 frameshift variant A/- del
CUI: C1853153
Disease: JOUBERT SYNDROME 6
JOUBERT SYNDROME 6 		Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases 0.700 1.000 1 2006 2006
dbSNP: rs786200867
rs786200867 		0.925 0.280 8 93808957 splice donor variant G/T snv
CUI: C1853153
Disease: JOUBERT SYNDROME 6
JOUBERT SYNDROME 6 		Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs797046045
rs797046045 		0.925 0.280 8 93755851 missense variant G/T snv 7.4E-06
CUI: C1853153
Disease: JOUBERT SYNDROME 6
JOUBERT SYNDROME 6 		Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs863225224
rs863225224 		1.000 0.160 8 93793299 splice region variant A/G snv
CUI: C1853153
Disease: JOUBERT SYNDROME 6
JOUBERT SYNDROME 6 		Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs863225225
rs863225225 		0.925 0.280 8 93797184 missense variant C/A snv
CUI: C1853153
Disease: JOUBERT SYNDROME 6
JOUBERT SYNDROME 6 		Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs863225226
rs863225226 		0.925 0.280 8 93758559 missense variant C/G snv
CUI: C1853153
Disease: JOUBERT SYNDROME 6
JOUBERT SYNDROME 6 		Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs863225227
rs863225227 		0.925 0.280 8 93780647 missense variant A/G snv 7.0E-06
CUI: C1853153
Disease: JOUBERT SYNDROME 6
JOUBERT SYNDROME 6 		Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs863225228
rs863225228 		0.925 0.280 8 93787884 missense variant C/T snv
CUI: C1853153
Disease: JOUBERT SYNDROME 6
JOUBERT SYNDROME 6 		Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs863225229
rs863225229 		1.000 0.160 8 93780608 missense variant A/G snv
CUI: C1853153
Disease: JOUBERT SYNDROME 6
JOUBERT SYNDROME 6 		Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs863225230
rs863225230 		1.000 0.160 8 93804807 missense variant C/A snv
CUI: C1853153
Disease: JOUBERT SYNDROME 6
JOUBERT SYNDROME 6 		Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs863225231
rs863225231 		0.925 0.280 8 93782455 missense variant C/G snv 7.0E-06
CUI: C1853153
Disease: JOUBERT SYNDROME 6
JOUBERT SYNDROME 6 		Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs863225232
rs863225232 		0.925 0.280 8 93782402 missense variant C/T snv 7.0E-06
CUI: C1853153
Disease: JOUBERT SYNDROME 6
JOUBERT SYNDROME 6 		Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs863225233
rs863225233 		0.925 0.280 8 93815365 missense variant T/G snv
CUI: C1853153
Disease: JOUBERT SYNDROME 6
JOUBERT SYNDROME 6 		Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs863225234
rs863225234 		0.925 0.280 8 93808922 missense variant A/C snv
CUI: C1853153
Disease: JOUBERT SYNDROME 6
JOUBERT SYNDROME 6 		Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs863225236
rs863225236 		1.000 0.160 8 93815341 missense variant G/A snv
CUI: C1853153
Disease: JOUBERT SYNDROME 6
JOUBERT SYNDROME 6 		Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs863225240
rs863225240 		1.000 0.160 8 93803689 splice region variant G/- del
CUI: C1853153
Disease: JOUBERT SYNDROME 6
JOUBERT SYNDROME 6 		Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs1554555063
rs1554555063 		0.882 0.160 8 93791324 splice region variant G/A snv
CUI: C1853153
Disease: JOUBERT SYNDROME 6
JOUBERT SYNDROME 6 		Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554557920
rs1554557920 		1.000 0.160 8 93803677 splice donor variant TGAGTAATGTAA/G delins
CUI: C1853153
Disease: JOUBERT SYNDROME 6
JOUBERT SYNDROME 6 		Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases 0.700 0
dbSNP: rs267607118
rs267607118 		1.000 0.160 8 93755044 stop gained C/T snv 4.0E-06 7.0E-06
CUI: C1853153
Disease: JOUBERT SYNDROME 6
JOUBERT SYNDROME 6 		Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases 0.700 0
dbSNP: rs267607114
rs267607114 		1.000 0.160 8 93793256 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C1853153
Disease: JOUBERT SYNDROME 6
JOUBERT SYNDROME 6 		Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases 0.800 1.000 5 2007 2015
dbSNP: rs758948621
rs758948621 		0.925 0.280 8 93797329 splice acceptor variant A/C snv 4.0E-06
CUI: C1853153
Disease: JOUBERT SYNDROME 6
JOUBERT SYNDROME 6 		Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs267607115
rs267607115 		0.925 0.280 8 93795503 missense variant T/C snv 4.0E-06 1.4E-05
CUI: C1853153
Disease: JOUBERT SYNDROME 6
JOUBERT SYNDROME 6 		Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases 0.700 1.000 3 2009 2015
dbSNP: rs386834202
rs386834202 		0.851 0.320 8 93765574 frameshift variant AG/- del 4.0E-06; 1.9E-04 5.6E-05
CUI: C1853153
Disease: JOUBERT SYNDROME 6
JOUBERT SYNDROME 6 		Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases 0.700 1.000 1 2015 2015