Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1569482153
rs1569482153
MED12
X 71134817 missense variant G/A snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1057519912
rs1057519912
MED12
0.776 0.200 X 71129408 missense variant C/G;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs1057519912
rs1057519912
MED12
0.776 0.200 X 71129408 missense variant C/G;T snv
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		0.700 1.000 1 2016 2016
dbSNP: rs1057519912
rs1057519912
MED12
0.776 0.200 X 71129408 missense variant C/G;T snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519912
rs1057519912
MED12
0.776 0.200 X 71129408 missense variant C/G;T snv
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		0.700 1.000 1 2016 2016
dbSNP: rs1057519912
rs1057519912
MED12
0.776 0.200 X 71129408 missense variant C/G;T snv
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas 		0.700 1.000 1 2016 2016
dbSNP: rs80338758
rs80338758
MED12
0.790 0.400 X 71127367 missense variant C/A;T snv
CUI: C0220769
Disease: FG syndrome
FG syndrome 		0.860 1.000 3 2007 2011
dbSNP: rs80338758
rs80338758
MED12
0.790 0.400 X 71127367 missense variant C/A;T snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs80338758
rs80338758
MED12
0.790 0.400 X 71127367 missense variant C/A;T snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs80338758
rs80338758
MED12
0.790 0.400 X 71127367 missense variant C/A;T snv
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		0.700 0
dbSNP: rs80338758
rs80338758
MED12
0.790 0.400 X 71127367 missense variant C/A;T snv
CUI: C0426891
Disease: Broad thumbs
Broad thumbs 		0.700 0
dbSNP: rs80338758
rs80338758
MED12
0.790 0.400 X 71127367 missense variant C/A;T snv
CUI: C0796022
Disease: Lujan Fryns syndrome
Lujan Fryns syndrome 		0.700 0
dbSNP: rs80338758
rs80338758
MED12
0.790 0.400 X 71127367 missense variant C/A;T snv
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.700 0
dbSNP: rs80338758
rs80338758
MED12
0.790 0.400 X 71127367 missense variant C/A;T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs80338758
rs80338758
MED12
0.790 0.400 X 71127367 missense variant C/A;T snv
CUI: C3698541
Disease: Ohdo syndrome, Maat-Kievit-Brunner type
Ohdo syndrome, Maat-Kievit-Brunner type 		0.700 0
dbSNP: rs1057519381
rs1057519381
MED12
0.851 0.240 X 71124276 missense variant G/A snv
CUI: C0220769
Disease: FG syndrome
FG syndrome 		0.700 0
dbSNP: rs1057519381
rs1057519381
MED12
0.851 0.240 X 71124276 missense variant G/A snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1057519381
rs1057519381
MED12
0.851 0.240 X 71124276 missense variant G/A snv
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome 		0.700 0
dbSNP: rs1057519381
rs1057519381
MED12
0.851 0.240 X 71124276 missense variant G/A snv
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.700 0
dbSNP: rs1057519381
rs1057519381
MED12
0.851 0.240 X 71124276 missense variant G/A snv
CUI: C4022856
Disease: Skewed maternal X inactivation
Skewed maternal X inactivation 		0.700 0
dbSNP: rs1057519381
rs1057519381
MED12
0.851 0.240 X 71124276 missense variant G/A snv
CUI: C4023386
Disease: Morphological abnormality of the semicircular canal
Morphological abnormality of the semicircular canal 		0.700 0
dbSNP: rs765417606
rs765417606
MED12
0.882 0.400 X 71124263 missense variant A/G snv 2.8E-05 8.6E-05
CUI: C0220769
Disease: FG syndrome
FG syndrome 		0.700 0
dbSNP: rs765417606
rs765417606
MED12
0.882 0.400 X 71124263 missense variant A/G snv 2.8E-05 8.6E-05
CUI: C3698541
Disease: Ohdo syndrome, Maat-Kievit-Brunner type
Ohdo syndrome, Maat-Kievit-Brunner type 		0.700 0
dbSNP: rs765417606
rs765417606
MED12
0.882 0.400 X 71124263 missense variant A/G snv 2.8E-05 8.6E-05
CUI: C0796022
Disease: Lujan Fryns syndrome
Lujan Fryns syndrome 		0.700 0
dbSNP: rs80338759
rs80338759
MED12
0.925 0.280 X 71127931 missense variant A/G snv
CUI: C0796022
Disease: Lujan Fryns syndrome
Lujan Fryns syndrome 		0.810 1.000 0 2007 2013