TMEM237, transmembrane protein 237, 65062

N. diseases: 91; N. variants: 9
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: rs199469707
rs199469707 		1.000 2 201640915 stop gained G/A snv 6.1E-05 6.3E-05
CUI: C3280766
Disease: JOUBERT SYNDROME 14
JOUBERT SYNDROME 14 		0.700 1.000 1 2011 2011
dbSNP: rs387907131
rs387907131 		1.000 2 201640264 stop gained G/A snv
CUI: C3280766
Disease: JOUBERT SYNDROME 14
JOUBERT SYNDROME 14 		0.700 1.000 1 2015 2015
dbSNP: rs55902839
rs55902839 		1.000 0.080 2 201641266 intron variant A/C snv 0.47
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 1 2017 2017
dbSNP: rs748510210
rs748510210 		1.000 2 201628075 splice donor variant C/A snv 1.7E-05
CUI: C3280766
Disease: JOUBERT SYNDROME 14
JOUBERT SYNDROME 14 		0.700 1.000 1 2015 2015
dbSNP: rs1445957469
rs1445957469 		1.000 2 201639047 splice acceptor variant T/C snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1445957469
rs1445957469 		1.000 2 201639047 splice acceptor variant T/C snv
CUI: C3280766
Disease: JOUBERT SYNDROME 14
JOUBERT SYNDROME 14 		0.700 0
dbSNP: rs730882231
rs730882231 		1.000 0.040 2 201629229 splice donor variant C/T snv
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs751952525
rs751952525 		1.000 2 201626118 frameshift variant -/G delins 2.0E-05
CUI: C3280766
Disease: JOUBERT SYNDROME 14
JOUBERT SYNDROME 14 		0.700 0
dbSNP: rs793888505
rs793888505 		1.000 2 201629728 splice donor variant C/A;T snv 8.9E-06
CUI: C3280766
Disease: JOUBERT SYNDROME 14
JOUBERT SYNDROME 14 		0.700 0
dbSNP: rs972221242
rs972221242 		1.000 2 201632186 stop gained G/A snv 4.0E-06
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs972221242
rs972221242 		1.000 2 201632186 stop gained G/A snv 4.0E-06
CUI: C3280766
Disease: JOUBERT SYNDROME 14
JOUBERT SYNDROME 14 		0.700 0