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
A 0.800 CausalMutation CLINVAR
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
dbSNP: rs1555939403
rs1555939403
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C2750452
Disease:
Waardenburg Syndrome, Type 4c
G 0.700 GeneticVariation CLINVAR
dbSNP: rs1555939421
rs1555939421
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C2750452
Disease:
Waardenburg Syndrome, Type 4c
CG 0.700 GeneticVariation CLINVAR
dbSNP: rs1555939426
rs1555939426
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C2750452
Disease:
Waardenburg Syndrome, Type 4c
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1555939459
rs1555939459
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C2750452
Disease:
Waardenburg Syndrome, Type 4c
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555939460
rs1555939460
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C2750452
Disease:
Waardenburg Syndrome, Type 4c
CC 0.700 GeneticVariation CLINVAR
dbSNP: rs1555939476
rs1555939476
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C2750452
Disease:
Waardenburg Syndrome, Type 4c
ACGGGCATGGGCACCAGCGTC 0.700 GeneticVariation CLINVAR
dbSNP: rs1555939523
rs1555939523
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C2750452
Disease:
Waardenburg Syndrome, Type 4c
A 0.700 CausalMutation CLINVAR
dbSNP: rs1569167515
rs1569167515
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C0018784
Disease:
Sensorineural Hearing Loss (disorder)
G 0.700 CausalMutation CLINVAR
dbSNP: rs1569167515
rs1569167515
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C1848519
Disease:
WAARDENBURG SYNDROME, TYPE 4A
G 0.700 CausalMutation CLINVAR
dbSNP: rs1569167515
rs1569167515
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C0578626
Disease:
blue iris (physical finding)
G 0.700 CausalMutation CLINVAR
dbSNP: rs1569167515
rs1569167515
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C0021364
Disease:
Male infertility
G 0.700 CausalMutation CLINVAR
dbSNP: rs1569167586
rs1569167586
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C4023381
Disease:
Morphological abnormality of the inner ear
C 0.700 CausalMutation CLINVAR
dbSNP: rs1569167586
rs1569167586
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C0020534
Disease:
Orbital separation excessive
C 0.700 CausalMutation CLINVAR
dbSNP: rs1569167586
rs1569167586
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C0003126
Disease:
Anosmia
C 0.700 CausalMutation CLINVAR
dbSNP: rs1569167586
rs1569167586
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C0401149
Disease:
Chronic constipation
C 0.700 CausalMutation CLINVAR
dbSNP: rs1569167586
rs1569167586
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C4023373
Disease:
Demyelinating sensory neuropathy
C 0.700 CausalMutation CLINVAR
dbSNP: rs1569167586
rs1569167586
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C2750452
Disease:
Waardenburg Syndrome, Type 4c
C 0.700 CausalMutation CLINVAR