PITX1, paired like homeodomain 1, 5307

N. diseases: 109; N. variants: 5
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: rs121909109
rs121909109 		1.000 0.080 5 135031290 missense variant C/T snv
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.810 1.000 3 2008 2012
dbSNP: rs31211
rs31211 		5 135027455 downstream gene variant G/A snv 0.29
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs3805663
rs3805663 		1.000 0.120 5 135030510 intron variant A/G snv 0.49
CUI: C0039590
Disease: Testicular Neoplasms
Testicular Neoplasms 		Neoplasms; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs3805663
rs3805663 		1.000 0.120 5 135030510 intron variant A/G snv 0.49
CUI: C1336708
Disease: Testicular Germ Cell Tumor
Testicular Germ Cell Tumor 		Neoplasms; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs730882191
rs730882191 		1.000 0.080 5 135028925 frameshift variant GCCGTACGGGCAAGCGCCCGGCGACATGGCCGAGT/- delins
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs479632
rs479632 		1.000 0.040 5 135028828 missense variant C/G snv 0.29 0.24
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		Musculoskeletal Diseases 0.010 < 0.001 1 2011 2011