SIX1, SIX homeobox 1, 6495

N. diseases: 200; N. variants: 12
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797044960
rs797044960
Entrez Id: 6495;113218481
Gene Symbol: SIX1;MIR9718
SIX1;MIR9718
CUI: C0266610
Disease:
Preauricular dimple
0.010 GeneticVariation BEFREE Herein, we identified a novel mutation in SIX1 (p.E125K) in a Tunisian family with variable HI and preauricular pits. 21700001 2011