SOX10, SRY-box transcription factor 10, 6663

N. diseases: 334; N. variants: 45
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909117
rs121909117
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C2750452
Disease:
Waardenburg Syndrome, Type 4c
0.800 GeneticVariation UNIPROT Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome. 21898658 2011
dbSNP: rs121909117
rs121909117
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C2750452
Disease:
Waardenburg Syndrome, Type 4c
0.800 GeneticVariation UNIPROT A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV. 18348274 2008
dbSNP: rs121909117
rs121909117
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C2750452
Disease:
Waardenburg Syndrome, Type 4c
0.800 GeneticVariation UNIPROT SOX10 mutations in patients with Waardenburg-Hirschsprung disease. 9462749 1998
dbSNP: rs121909117
rs121909117
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C2750452
Disease:
Waardenburg Syndrome, Type 4c
A 0.800 CausalMutation CLINVAR
dbSNP: rs1555937398
rs1555937398
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C1860339
Disease:
WAARDENBURG SYNDROME, TYPE IIA
C 0.700 GeneticVariation CLINVAR Waardenburg syndrome: Novel mutations in a large Brazilian sample. 29407415 2018
dbSNP: rs1555938422
rs1555938422
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C1860339
Disease:
WAARDENBURG SYNDROME, TYPE IIA
A 0.700 GeneticVariation CLINVAR Waardenburg syndrome: Novel mutations in a large Brazilian sample. 29407415 2018
dbSNP: rs1555939415
rs1555939415
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C1860339
Disease:
WAARDENBURG SYNDROME, TYPE IIA
G 0.700 GeneticVariation CLINVAR Waardenburg syndrome: Novel mutations in a large Brazilian sample. 29407415 2018
dbSNP: rs1555939564
rs1555939564
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C1860339
Disease:
WAARDENBURG SYNDROME, TYPE IIA
G 0.700 GeneticVariation CLINVAR Waardenburg syndrome: Novel mutations in a large Brazilian sample. 29407415 2018
dbSNP: rs267607081
rs267607081
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C1836727
Disease:
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
0.700 GeneticVariation UNIPROT Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome. 21898658 2011
dbSNP: rs74315515
rs74315515
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C2700405
Disease:
WAARDENBURG SYNDROME, TYPE IIE
0.700 GeneticVariation UNIPROT Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome. 21898658 2011
dbSNP: rs750566714
rs750566714
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C2700405
Disease:
WAARDENBURG SYNDROME, TYPE IIE
0.700 GeneticVariation UNIPROT Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome. 21898658 2011
dbSNP: rs267607081
rs267607081
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C1836727
Disease:
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
0.700 GeneticVariation UNIPROT Aplasia of cochlear nerves and olfactory bulbs in association with SOX10 mutation. 19208381 2009
dbSNP: rs74315515
rs74315515
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C2700405
Disease:
WAARDENBURG SYNDROME, TYPE IIE
0.700 GeneticVariation UNIPROT Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4. 17999358 2007
dbSNP: rs750566714
rs750566714
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C2700405
Disease:
WAARDENBURG SYNDROME, TYPE IIE
0.700 GeneticVariation UNIPROT Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4. 17999358 2007
dbSNP: rs267607081
rs267607081
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C1836727
Disease:
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
0.700 GeneticVariation UNIPROT Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations. 15004559 2004
dbSNP: rs267607081
rs267607081
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C1836727
Disease:
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
0.700 GeneticVariation UNIPROT Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain. 10762540 2000
dbSNP: rs74315515
rs74315515
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C2700405
Disease:
WAARDENBURG SYNDROME, TYPE IIE
0.700 GeneticVariation UNIPROT A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies. 10441344 1999
dbSNP: rs750566714
rs750566714
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C2700405
Disease:
WAARDENBURG SYNDROME, TYPE IIE
0.700 GeneticVariation UNIPROT A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies. 10441344 1999
dbSNP: rs1057518656
rs1057518656
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C2700405
Disease:
WAARDENBURG SYNDROME, TYPE IIE
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1064796049
rs1064796049
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C2750452
Disease:
Waardenburg Syndrome, Type 4c
G 0.700 GeneticVariation CLINVAR
dbSNP: rs1373797370
rs1373797370
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C2750452
Disease:
Waardenburg Syndrome, Type 4c
G 0.700 GeneticVariation CLINVAR
dbSNP: rs1555937390
rs1555937390
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C2750452
Disease:
Waardenburg Syndrome, Type 4c
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555937395
rs1555937395
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C2750452
Disease:
Waardenburg Syndrome, Type 4c
GC 0.700 GeneticVariation CLINVAR
dbSNP: rs1555937400
rs1555937400
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C2750452
Disease:
Waardenburg Syndrome, Type 4c
A 0.700 CausalMutation CLINVAR
dbSNP: rs1555937463
rs1555937463
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C2750452
Disease:
Waardenburg Syndrome, Type 4c
CT 0.700 GeneticVariation CLINVAR