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: rs762543032
rs762543032 		1.000 0.160 8 93755798 missense variant C/T snv 4.3E-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 6 2007 2015
dbSNP: rs772437766
rs772437766 		1.000 0.160 8 93755799 missense variant C/G;T snv 8.6E-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 6 2007 2015
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: rs781383498
rs781383498 		1.000 0.160 8 93799649 missense variant A/C snv 8.0E-06 2.1E-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 5 2007 2015
dbSNP: rs116647652
rs116647652 		1.000 0.160 8 93786285 stop gained C/A;T snv 8.0E-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: 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: rs751309268
rs751309268 		1.000 0.160 8 93755854 stop gained C/A;T snv 8.1E-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: rs751517725
rs751517725 		1.000 0.160 8 93803652 stop gained C/G;T snv 4.0E-06; 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: rs775256658
rs775256658 		1.000 0.160 8 93780985 splice region variant A/G 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: 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: 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: 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: rs863225237
rs863225237 		1.000 0.160 8 93782410 stop gained G/A;C;T snv 4.0E-06; 4.0E-06; 8.0E-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: rs863225238
rs863225238 		1.000 0.160 8 93797456 missense variant C/T snv 4.0E-06; 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: rs863225239
rs863225239 		1.000 0.160 8 93809166 splice region variant G/A 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: 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: rs771551765
rs771551765 		0.925 0.200 8 93815388 missense variant G/A snv 8.0E-06 4.2E-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 2 1999 2017
dbSNP: rs775883520
rs775883520 		0.851 0.240 8 93780603 missense variant A/G snv 8.0E-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 1.000 4 2010 2017
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: 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: rs750950408
rs750950408 		0.925 0.280 8 93765414 missense variant G/A;T snv 2.4E-05; 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