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: rs1569167515
rs1569167515 		0.925 0.200 22 37973567 inframe deletion CTGGGGTCAGAGATG/- delins
CUI: C0021364
Disease: Male infertility
Male infertility 		Male Urogenital Diseases 0.700 0
dbSNP: rs1569167586
rs1569167586 		0.851 0.160 22 37973687 frameshift variant AGTAG/- delins
CUI: C4023373
Disease: Demyelinating sensory neuropathy
Demyelinating sensory neuropathy 		0.700 0
dbSNP: rs1569167586
rs1569167586 		0.851 0.160 22 37973687 frameshift variant AGTAG/- delins
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
Peripheral demyelinating neuropathy 		Immune System Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1569167586
rs1569167586 		0.851 0.160 22 37973687 frameshift variant AGTAG/- delins
CUI: C4023381
Disease: Morphological abnormality of the inner ear
Morphological abnormality of the inner ear 		0.700 0
dbSNP: rs1569167586
rs1569167586 		0.851 0.160 22 37973687 frameshift variant AGTAG/- delins
CUI: C0025160
Disease: Megacolon
Megacolon 		Digestive System Diseases 0.700 0
dbSNP: rs1569167586
rs1569167586 		0.851 0.160 22 37973687 frameshift variant AGTAG/- 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: rs1569167586
rs1569167586 		0.851 0.160 22 37973687 frameshift variant AGTAG/- delins
CUI: C0401149
Disease: Chronic constipation
Chronic constipation 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1569167586
rs1569167586 		0.851 0.160 22 37973687 frameshift variant AGTAG/- delins
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1569167586
rs1569167586 		0.851 0.160 22 37973687 frameshift variant AGTAG/- delins
CUI: C4477049
Disease: Hypoplasia of the olfactory bulb
Hypoplasia of the olfactory bulb 		0.700 0
dbSNP: rs1569167586
rs1569167586 		0.851 0.160 22 37973687 frameshift variant AGTAG/- delins
CUI: C0003126
Disease: Anosmia
Anosmia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
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: 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: 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: rs74315514
rs74315514 		0.925 0.280 22 37977999 stop gained C/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