RFX6, regulatory factor X6, 222546

N. diseases: 39; N. variants: 13
Disease: Congenital anomaly of gastrointestinal tract ×
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: rs1562146029
rs1562146029 		1.000 0.160 6 116920441 frameshift variant TCTA/- delins
CUI: C0012241
Disease: Congenital anomaly of gastrointestinal tract
Congenital anomaly of gastrointestinal tract 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications 0.700 0
dbSNP: rs1445567359
rs1445567359 		1.000 0.160 6 116919268 missense variant G/A snv 8.0E-06
CUI: C0012241
Disease: Congenital anomaly of gastrointestinal tract
Congenital anomaly of gastrointestinal tract 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications 0.700 0