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: rs201502401
rs201502401 		0.882 0.320 4 15599699 missense variant A/T snv 2.0E-04 2.0E-04
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		Pathological Conditions, Signs and Symptoms 0.700 1.000 6 2009 2015
dbSNP: rs370880399
rs370880399 		0.827 0.360 4 15563395 stop gained C/T snv 1.0E-04 1.0E-04
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		Pathological Conditions, Signs and Symptoms 0.700 1.000 4 2008 2015
dbSNP: rs386833750
rs386833750 		0.807 0.360 4 15563485 stop gained C/A;G;T snv 2.0E-05; 2.0E-05
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		Pathological Conditions, Signs and Symptoms 0.700 1.000 2 2009 2010
dbSNP: rs386833751
rs386833751 		0.851 0.320 4 15567676 splice acceptor variant G/- delins
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		Pathological Conditions, Signs and Symptoms 0.700 1.000 2 2008 2012
dbSNP: rs386833759
rs386833759 		0.851 0.320 4 15580171 splice region variant AGTA/- delins 7.0E-06
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		Pathological Conditions, Signs and Symptoms 0.700 1.000 2 2009 2015
dbSNP: rs386833760
rs386833760 		0.790 0.360 4 15587929 splice donor variant G/- delins 1.9E-04
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		Pathological Conditions, Signs and Symptoms 0.700 1.000 2 2009 2015
dbSNP: rs200407856
rs200407856 		0.882 0.320 4 15516005 splice donor variant G/A snv 4.7E-05 7.7E-05
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2009 2009
dbSNP: rs797045437
rs797045437 		0.882 0.320 4 15597432 frameshift variant GACA/- delins
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2016 2016
dbSNP: rs368720062
rs368720062 		1.000 0.040 4 15596154 missense variant T/C snv 1.3E-05 7.0E-06
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs377177061
rs377177061 		1.000 0.040 4 15502879 stop gained C/G;T snv 4.1E-06; 2.9E-05
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs587779732
rs587779732 		1.000 0.040 4 15596177 missense variant C/A;G;T snv 3.2E-05
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs757208121
rs757208121 		0.882 0.200 4 15527564 stop gained C/T snv 4.0E-06 1.4E-05
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs758036385
rs758036385 		0.925 0.200 4 15586169 stop gained C/T snv 4.0E-06 7.0E-06
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs781252161
rs781252161 		0.827 0.360 4 15533284 stop gained C/T snv 1.8E-05 7.0E-06
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		Pathological Conditions, Signs and Symptoms 0.700 0