POLR2F, RNA polymerase II subunit F, 5435

N. diseases: 30; N. variants: 47
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: rs533778281
rs533778281 		1.000 22 38016774 intron variant G/C snv 9.5E-04
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs606231342
rs606231342 		1.000 22 38016208 intron variant G/A snv 1.4E-05
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs1555939564
rs1555939564 		1.000 0.040 22 37983723 frameshift variant CTCCGAGCCCACGGGGCTC/- delins
CUI: C1860339
Disease: WAARDENBURG SYNDROME, TYPE IIA
WAARDENBURG SYNDROME, TYPE IIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 1 2018 2018
dbSNP: rs199750760
rs199750760 		22 37983663 missense variant C/A;T snv 5.7E-04; 5.0E-06
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1555939523
rs1555939523 		1.000 0.080 22 37983658 stop gained G/A snv
CUI: C2750452
Disease: Waardenburg Syndrome, Type 4c
Waardenburg Syndrome, Type 4c 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 0
dbSNP: rs1064796049
rs1064796049 		1.000 0.080 22 37983644 frameshift variant C/- delins
CUI: C2750452
Disease: Waardenburg Syndrome, Type 4c
Waardenburg Syndrome, Type 4c 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 0
dbSNP: rs73415876
rs73415876 		1.000 0.080 22 37983536 stop gained G/A;C;T snv 9.2E-03
CUI: C2750452
Disease: Waardenburg Syndrome, Type 4c
Waardenburg Syndrome, Type 4c 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 0
dbSNP: rs1555939476
rs1555939476 		1.000 0.080 22 37983510 frameshift variant -/GGGCATGGGCACCAGCGTCC delins
CUI: C2750452
Disease: Waardenburg Syndrome, Type 4c
Waardenburg Syndrome, Type 4c 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 0
dbSNP: rs1555939460
rs1555939460 		1.000 0.080 22 37983485 frameshift variant GCT/CC delins
CUI: C2750452
Disease: Waardenburg Syndrome, Type 4c
Waardenburg Syndrome, Type 4c 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 0
dbSNP: rs1555939459
rs1555939459 		1.000 0.080 22 37983484 stop gained T/A snv
CUI: C2750452
Disease: Waardenburg Syndrome, Type 4c
Waardenburg Syndrome, Type 4c 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 0
dbSNP: rs1057518656
rs1057518656 		1.000 0.040 22 37983469 missense variant G/C snv
CUI: C2700405
Disease: WAARDENBURG SYNDROME, TYPE IIE
WAARDENBURG SYNDROME, TYPE IIE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1555939426
rs1555939426 		1.000 0.080 22 37983421 missense variant G/C snv
CUI: C2750452
Disease: Waardenburg Syndrome, Type 4c
Waardenburg Syndrome, Type 4c 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 0
dbSNP: rs1555939421
rs1555939421 		1.000 0.080 22 37983404 frameshift variant -/G delins
CUI: C2750452
Disease: Waardenburg Syndrome, Type 4c
Waardenburg Syndrome, Type 4c 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 0
dbSNP: rs1555939415
rs1555939415 		1.000 0.040 22 37983382 missense variant T/G snv
CUI: C1860339
Disease: WAARDENBURG SYNDROME, TYPE IIA
WAARDENBURG SYNDROME, TYPE IIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 1 2018 2018
dbSNP: rs74315515
rs74315515 		0.925 0.240 22 37983381 missense variant C/G;T snv
CUI: C2700405
Disease: WAARDENBURG SYNDROME, TYPE IIE
WAARDENBURG SYNDROME, TYPE IIE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 3 1999 2011
dbSNP: rs74315515
rs74315515 		0.925 0.240 22 37983381 missense variant C/G;T snv
CUI: C1866425
Disease: Yemenite deaf-blind hypopigmentation syndrome
Yemenite deaf-blind hypopigmentation syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1555939403
rs1555939403 		1.000 0.080 22 37983359 stop gained C/G;T snv
CUI: C2750452
Disease: Waardenburg Syndrome, Type 4c
Waardenburg Syndrome, Type 4c 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 0
dbSNP: rs1569169328
rs1569169328 		0.925 0.200 22 37978136 splice acceptor variant C/T snv
CUI: C0025160
Disease: Megacolon
Megacolon 		Digestive System Diseases 0.700 0
dbSNP: rs1569169328
rs1569169328 		0.925 0.200 22 37978136 splice acceptor variant C/T snv
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
WAARDENBURG SYNDROME, TYPE 4A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 0
dbSNP: rs1569169328
rs1569169328 		0.925 0.200 22 37978136 splice acceptor variant C/T snv
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1555938422
rs1555938422 		1.000 0.040 22 37978134 frameshift variant G/- del
CUI: C1860339
Disease: WAARDENBURG SYNDROME, TYPE IIA
WAARDENBURG SYNDROME, TYPE IIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 1 2018 2018
dbSNP: rs1373797370
rs1373797370 		1.000 0.080 22 37978112 missense variant C/G;T snv
CUI: C2750452
Disease: Waardenburg Syndrome, Type 4c
Waardenburg Syndrome, Type 4c 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 0
dbSNP: rs121909117
rs121909117 		1.000 0.080 22 37978094 missense variant G/A snv
CUI: C2750452
Disease: Waardenburg Syndrome, Type 4c
Waardenburg Syndrome, Type 4c 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.800 1.000 3 1998 2011
dbSNP: rs750566714
rs750566714 		1.000 0.040 22 37978082 missense variant C/T snv 7.0E-06
CUI: C2700405
Disease: WAARDENBURG SYNDROME, TYPE IIE
WAARDENBURG SYNDROME, TYPE IIE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 3 1999 2011
dbSNP: rs397515366
rs397515366 		1.000 0.080 22 37978081 inframe insertion -/AGGAGC ins
CUI: C2750452
Disease: Waardenburg Syndrome, Type 4c
Waardenburg Syndrome, Type 4c 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 0