SOX10, SRY-box transcription factor 10, 6663

N. diseases: 334; N. variants: 45
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: rs1569167607
rs1569167607 		1.000 0.040 22 37973727 stop gained G/C snv
CUI: C1836735
Disease: hypopigmented skin patch
hypopigmented skin patch 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1569167607
rs1569167607 		1.000 0.040 22 37973727 stop gained G/C snv
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1569167607
rs1569167607 		1.000 0.040 22 37973727 stop gained 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: rs1569169289
rs1569169289 		1.000 0.040 22 37978077 stop gained G/A snv
CUI: C2700405
Disease: WAARDENBURG SYNDROME, TYPE IIE
WAARDENBURG SYNDROME, TYPE IIE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs281797260
rs281797260 		1.000 0.080 22 37977943 stop gained 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: 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
dbSNP: rs397515367
rs397515367 		1.000 0.080 22 37973818 frameshift variant CT/- 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: rs397515368
rs397515368 		1.000 0.120 22 37973485 stop lost CCCTTTAGGGCC/- delins
CUI: C1836727
Disease: Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases 0.700 0
dbSNP: rs397515371
rs397515371 		1.000 0.120 22 37974099 frameshift variant C/- delins
CUI: C1836727
Disease: Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases 0.700 0
dbSNP: rs397515372
rs397515372 		1.000 0.120 22 37973981 frameshift variant C/- delins
CUI: C1836727
Disease: Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous 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: rs74315516
rs74315516 		1.000 0.120 22 37973957 stop gained G/C;T snv
CUI: C1836727
Disease: Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases 0.700 0
dbSNP: rs74315518
rs74315518 		1.000 0.120 22 37974144 stop gained G/A;T snv 4.1E-06
CUI: C1836727
Disease: Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases 0.700 0
dbSNP: rs760539449
rs760539449 		1.000 0.080 22 37974064 missense variant T/C snv 8.4E-05 5.6E-05
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 0
dbSNP: rs763210407
rs763210407 		1.000 0.080 22 37977978 stop gained C/A;G;T snv 1.6E-05; 6.9E-05
CUI: C2750452
Disease: Waardenburg Syndrome, Type 4c
Waardenburg Syndrome, Type 4c 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 0