TMEM67, transmembrane protein 67, 91147

N. diseases: 215; N. variants: 87
Disease: Meckel-Gruber syndrome ×
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: rs201893408
rs201893408 		0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		Pathological Conditions, Signs and Symptoms 0.700 1.000 7 2009 2015
dbSNP: rs386834180
rs386834180 		0.776 0.360 8 93781725 missense variant T/C snv 2.0E-05 4.2E-05
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		Pathological Conditions, Signs and Symptoms 0.700 1.000 6 2007 2016
dbSNP: rs386834202
rs386834202 		0.851 0.320 8 93765574 frameshift variant AG/- del 4.0E-06; 1.9E-04 5.6E-05
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		Pathological Conditions, Signs and Symptoms 0.700 1.000 6 2009 2017
dbSNP: rs863225235
rs863225235 		0.790 0.360 8 93782444 missense variant C/A snv 4.0E-06 7.0E-06
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		Pathological Conditions, Signs and Symptoms 0.700 1.000 6 2002 2016
dbSNP: rs137853108
rs137853108 		0.851 0.320 8 93765617 stop gained A/T snv 1.8E-04 2.6E-04
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		Pathological Conditions, Signs and Symptoms 0.700 1.000 5 2007 2015
dbSNP: rs267607119
rs267607119 		0.827 0.360 8 93808898 missense variant T/C snv 4.0E-05 8.4E-05
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		Pathological Conditions, Signs and Symptoms 0.700 1.000 2 2009 2011
dbSNP: rs775883520
rs775883520 		0.851 0.240 8 93780603 missense variant A/G snv 8.0E-06 7.0E-06
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		Pathological Conditions, Signs and Symptoms 0.700 1.000 2 2015 2017
dbSNP: rs386834185
rs386834185 		0.882 0.320 8 93787843 splice acceptor variant G/C;T snv
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2010 2010
dbSNP: rs765468645
rs765468645 		0.882 0.160 8 93765413 stop gained C/T snv 8.0E-06 2.1E-05
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2016 2016
dbSNP: rs1064792983
rs1064792983 		0.925 0.200 8 93803676 splice donor variant ATGAGTAATGTAA/GG delins
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1554556213
rs1554556213 		0.925 0.200 8 93795895 splice region variant TTAT/ATAA mnv
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs587779736
rs587779736 		1.000 0.040 8 93780626 missense variant G/A snv 4.0E-06 2.1E-05
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		Pathological Conditions, Signs and Symptoms 0.700 0