TBX18, T-box transcription factor 18, 9096

N. diseases: 31; N. variants: 8
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: rs760905589
rs760905589
1.000 0.120 6 84736939 missense variant G/A snv 8.1E-06
Obstruction of pelviureteric junction
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2015 2015
dbSNP: rs761391
rs761391
6 84738385 intron variant C/T snv 0.45
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2019 2019
dbSNP: rs9344420
rs9344420
6 84718255 intron variant G/A;C snv
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
0.700 1.000 1 2019 2019
dbSNP: rs9362083
rs9362083
6 84686401 upstream gene variant T/A snv 0.63
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
0.700 1.000 1 2019 2019
dbSNP: rs9362097
rs9362097
6 84724773 intron variant G/A snv 0.45
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
0.700 1.000 1 2018 2018
dbSNP: rs760905589
rs760905589
1.000 0.120 6 84736939 missense variant G/A snv 8.1E-06
MULTICYSTIC RENAL DYSPLASIA, BILATERAL
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs797045022
rs797045022
1.000 0.120 6 84762554 missense variant T/C snv 7.0E-06
Obstruction of pelviureteric junction
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs797045022
rs797045022
1.000 0.120 6 84762554 missense variant T/C snv 7.0E-06
MULTICYSTIC RENAL DYSPLASIA, BILATERAL
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs869320679
rs869320679
1.000 0.120 6 84738586 frameshift variant C/- delins
MULTICYSTIC RENAL DYSPLASIA, BILATERAL
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs77693245
rs77693245
6 84765153 upstream gene variant G/A;T snv
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2013 2013